Materiały źródłowe

• #1 Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1556-3

  Huntingtons disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. […] Evidence on epidemiology and management of HD is limited, especially for Germany. This study aims to estimate the incidence and prevalence of HD and analyze the current routine care based on German claims data. […] A 2-year incidence of 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.42.4) and a 2-year period prevalence of 9.3 per 100,000 persons (95%-CI: 8.310.4) was observed. The prevalence of HD increased with advancing age, peaking at 6069years (16.8 per 100,000 persons; 95%-CI: 13.421.0) and decreasing afterwards. […] In Germany, information about the epidemiology and management of HD is scarce. […] Current, real-world data could be used to improve healthcare planning in order to better meet the needs of affected patients.

• #2 Huntington Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559166/

  Huntington disease is a rare neurodegenerative disorder with a worldwide prevalence of 2.7 per 100,000. A high prevalence of 10.6 to 13.7 per 100,000 is observed among populations of Caucasian descent. The prevalence is much lower for Asian and African nations. The prevalence varies amongst geographical locations by more than 10-fold. These differences are largely attributed to ethnic differences in the CAG repeat length. An average CAG repeat length of 18.4 to 18.7 in people of Caucasian descent versus 17.5 to 17.7 in people of East Asian descent has been noted. Over the past decades, the overall prevalence also increased due to longer lifespans and more accurate genetic tests.[6][7][8] […] Studies have found 3 significant categories of risk factors for the onset of the disease. The CAG repeat lengths in the HTT gene, instability of CAG, and genetic modifiers were identified as risk factors.[5]

• #3 Prevalence and Incidence of Huntington’s Disease: An Updated Systematic Review and Meta‐Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

  The incidence and prevalence of Huntington’s disease (HD) based on a systematic review and metaanalysis of 20 studies published from 1985 to 2010 was estimated at 0.38 per 100,000 personyears (95% confidence interval [CI], 0.160.94) and 2.71 per 100,000 persons (95% CI, 1.554.72), respectively. […] Since 2010, there have been many new epidemiological studies of HD. We sought to update the global estimates of HD incidence and prevalence using data published up to February 2022 and perform additional analyses based on study continent. […] A total of 33 studies published between 2010 and 2022 were included. Pooled incidence was 0.48 cases per 100,000 personyears (95% CI, 0.330.63). Subgroup analysis by continent demonstrated a significantly higher incidence of HD in Europe and North America than in Asia. Pooled prevalence was 4.88 per 100,000 (95% CI, 3.387.06). Subanalyses by continent demonstrated that the prevalence of HD was significantly higher in Europe and North America than in Africa.

• #4 Prevalence and Incidence of Huntington’s Disease: An Updated Systematic Review and Meta‐Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

  Therefore, given the evolving landscape of HD epidemiology and diagnosis, in this study we aimed to update the global prevalence and incidence estimates of HD using epidemiological data published since 2010. […] The overall incidence for the combined metaanalysis was 0.47 cases per 100,000 personyears (95% CI, 0.360.59; I 2 =63%; Q = 44). Subgroup analysis by continent revealed a significantly higher incidence of HD in Europe (0.38 per 100,000 personyears; 95% CI, 0.280.49), North America (1.04 per 100,000 personyears; 95% CI, 0.281.80), and Oceania (0.65 per 100,000 personyears; 95% CI, 0.440.85) compared with Asia (0.08 per 100,000 personyears; 95% CI, 0.030.12). […] The pooled prevalence incorporating all studies from 1985 to 2022 was 3.92 cases per 100,000 (95% CI, 2.905.30; I 2 =50%; Q = 71). Subgroup analysis by continent revealed a significantly higher prevalence of HD in Europe (5.65 per 100,000; 95% CI, 4.317.41), North America (7.43 per 100,000; 95% CI, 4.0813.53), and Oceania (8.61 per 100,000; 95% CI, 4.5516.31) than in Africa (0.25 per 100,000; 95% CI, 0.022.61) and Asia (0.99 per 100,000; 95% CI, 0.332.95).

• #5 Huntington disease: Clinical features and diagnosis – UpToDate

  https://www.uptodate.com/contents/huntington-disease-clinical-features-and-diagnosis

  Huntington disease (HD) is an inherited progressive neurodegenerative disorder characterized by choreiform movements, psychiatric problems, and dementia. It is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4p and inherited in an autosomal dominant pattern. The pathophysiology of HD is not fully understood, although it is thought to be related to toxicity of the mutant huntingtin protein. As there is no known cure, treatment is symptomatic and remains supportive. […] A 2022 meta-analysis that evaluated HD epidemiology studies published since 2010 made the following observations: The worldwide prevalence of HD was 4.88 cases per 100,000 persons. The prevalence is highest in studies from North America (8.87 cases per 100,000 persons) and Europe (6.37 cases per 100,000 persons).

• #6 Huntington’s disease prevalence in Asia: a systematic review and meta-analysis | Rivista di Psichiatria

  https://www.rivistadipsichiatria.it/archivio/4205/articoli/41943/

  Huntingtons disease prevalence in Asia: a systematic review and meta-analysis […] Summary. Introduction. The epidemiological studies on Huntingtons disease (HD) in the Asian population suggest that prevalence rates are significantly lower than in the Western population. […] The overall prevalence in Asia is PP=0.70 (CI95=0.44-1.0). […] Our study reveals that HD disease affects the population of Asia to a lesser extent than in Europe. […] The plausible explanation for differences in prevalence is that in some countries, the affected individuals will not self-refer to HD screening for fear of social stigma, negative influence in marriage, and lack of genetic and neurological testing. […] Studies conducted before the HD gene was discovered in 1993 may have overestimated the actual incidence by up to 14 per cent globally. […] A systematic meta-analysis review found that the overall prevalence for non-Asian studies was 5.7 per 100,000, while the overall majority for Asian studies was 0.4 per 100,000 people. […] It is thought that an increase in prevalence may be mainly attributable to longer lifespans in the population and maybe longer survival times for HD patients as a result of improved treatment. […] The present studys authors incorporated papers describing molecular processes of diagnosis to account for the differences in epidemiological studies, which would ultimately improve the trustworthiness of epidemiological studies on HD. […] In general, Europeans have a greater HD frequency than East Asian populations. […] According to epidemiological research on HD, prevalence rates in the Asian population are much lower than in the western population. […] To emphasise HDs effects on the Asian population and to compare it to the rest of the globe, this systematic evaluation of epidemiological data on HD prevalence in Asia was conducted. […] The primary goal was to measure HDs prevalence in Asia. The prevalence was computed as the proportion of HD patients in a population of 100,000. […] The PP in Asia results in 0.67 (CI95=0.43-1.04) 100,000 vs Europe 1.63-9.95 100,000, with no statistical difference between PPlower (p=0.40), and a statistically significant difference between PPhigher (p=0.015) hence not allowing to reject Ho2 entirely. […] According to our research, Asia is less affected by Huntingtons disease than Europe. […] Further study is needed to assess the exact prevalence of HD better since both the Asian and Western populations total HD prevalence is underestimated. […]

• #7 Prevalence and Incidence of Huntington’s Disease: An Updated Systematic Review and Meta‐Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

  The minor increase in prevalence (more so than incidence) demonstrated in this updated review could relate to the enhanced availability of molecular testing, earlier diagnosis, increased life expectancy, and de novo mutations. […] The pooled incidence of HD based on studies published from 1985 to 2010 has been estimated as 0.38 per 100,000 personyears (95% confidence interval [CI], 0.160.94), with a global overall prevalence of 2.71 per 100,000 (95% CI, 1.554.72). […] More recent studies highlight that there is an increment in prevalence in some regions. […] Variability in case ascertainment may play a role in the regional heterogeneity of reported epidemiological data. […] Since the previously published systematic review and metaanalysis on the global prevalence and incidence of HD, there have been many new epidemiological reports in the literature (particularly since 2016), with expanded utilization of confirmatory genetic testing for case ascertainment.

• #8 The Prevalence of Huntington’s Disease. – Document – Gale OneFile: Health and Medicine

  https://go.gale.com/ps/i.do?id=GALE%7CA637316972&sid=googleScholar&v=2.1&it=r&linkaccess=abs&issn=02515350&p=HRCA&sw=w

  Background: Reviews of the epidemiology of Huntington’s disease (HD) suggest that its worldwide prevalence varies widely. […] The lowest rates were among the Asians and the highest among the Caucasians. […] There was evidence of an increasing prevalence of between 15 and 20% per decade in studies from Australia, North America and Western Europe. […] The prevalence of HD varies more than tenfold between different geographical regions. […] There is also evidence that in Australia, North America and in Western Europe (including the United Kingdom), prevalence has increased over the past 50 plus years.

• #9 Huntington’s Disease: About & Symptoms | Medically Roche

  https://medically.roche.com/global/en/microsites/huntingtons-disease.html

  Huntington’s disease (HD) is the most common monogenic neurological disorder in the developed world. HD has an average prevalence rate of ~10 in 100,000, which has increased worldwide between 920% each decade. […] The prevalence of Huntington’s disease has been studied in various regions, with significant findings reported in multiple sources. For instance, the prevalence of adult Huntington’s disease in the UK is based on diagnoses recorded in general practice records. […] Epidemiology of Huntington disease has been analyzed, including the first post-HTT gene analysis of prevalence in Italy.

• #10 Huntington Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559166/

  Huntington disease is a rare neurodegenerative disorder with a worldwide prevalence of 2.7 per 100,000. A high prevalence of 10.6 to 13.7 per 100,000 is observed among populations of Caucasian descent. The prevalence is much lower for Asian and African nations. The prevalence varies amongst geographical locations by more than 10-fold. These differences are largely attributed to ethnic differences in the CAG repeat length. An average CAG repeat length of 18.4 to 18.7 in people of Caucasian descent versus 17.5 to 17.7 in people of East Asian descent has been noted. Over the past decades, the overall prevalence also increased due to longer lifespans and more accurate genetic tests.[6][7][8] […] Studies have found 3 significant categories of risk factors for the onset of the disease. The CAG repeat lengths in the HTT gene, instability of CAG, and genetic modifiers were identified as risk factors.[5]

• #11 Huntington’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Huntington%27s_disease

  The late onset of Huntington’s disease means it does not usually affect reproduction. The worldwide prevalence of HD is 510 cases per 100,000 persons, but varies greatly geographically as a result of ethnicity, local migration and past immigration patterns. Prevalence is similar for men and women. The rate of occurrence is highest in peoples of Western European descent, averaging around seven per 100,000 people, and is lower in the rest of the world; e.g., one per million people of Asian and African descent. A 2013 epidemiological study of the prevalence of Huntington’s disease in the UK between 1990 and 2010 found that the average prevalence for the UK was 12.3 per 100,000. Additionally, some localized areas have a much higher prevalence than their regional average. One of the highest incidences is in the isolated populations of the Lake Maracaibo region of Venezuela, where HD affects up to 700 per 100,000 persons. Other areas of high localization have been found in Tasmania and specific regions of Scotland, Wales and Sweden. Increased prevalence in some cases occurs due to a local founder effect, a historical migration of carriers into an area of geographic isolation. Some of these carriers have been traced back hundreds of years using genealogical studies. Genetic haplotypes can also give clues for the geographic variations of prevalence. Iceland, on the contrary, has a rather low prevalence of 1 per 100,000, despite the fact that Icelanders as a people are descended from the early Germanic tribes of Scandinavia which also gave rise to the Swedes; all cases with the exception of one going back nearly two centuries having derived from the offspring of a couple living early in the 19th century. Finland, as well, has a low incidence of only 2.2 per 100,000 people.

• #12 Prevalence and Incidence of Huntington’s Disease: An Updated Systematic Review and Meta‐Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

  Therefore, given the evolving landscape of HD epidemiology and diagnosis, in this study we aimed to update the global prevalence and incidence estimates of HD using epidemiological data published since 2010. […] The overall incidence for the combined metaanalysis was 0.47 cases per 100,000 personyears (95% CI, 0.360.59; I 2 =63%; Q = 44). Subgroup analysis by continent revealed a significantly higher incidence of HD in Europe (0.38 per 100,000 personyears; 95% CI, 0.280.49), North America (1.04 per 100,000 personyears; 95% CI, 0.281.80), and Oceania (0.65 per 100,000 personyears; 95% CI, 0.440.85) compared with Asia (0.08 per 100,000 personyears; 95% CI, 0.030.12). […] The pooled prevalence incorporating all studies from 1985 to 2022 was 3.92 cases per 100,000 (95% CI, 2.905.30; I 2 =50%; Q = 71). Subgroup analysis by continent revealed a significantly higher prevalence of HD in Europe (5.65 per 100,000; 95% CI, 4.317.41), North America (7.43 per 100,000; 95% CI, 4.0813.53), and Oceania (8.61 per 100,000; 95% CI, 4.5516.31) than in Africa (0.25 per 100,000; 95% CI, 0.022.61) and Asia (0.99 per 100,000; 95% CI, 0.332.95).

• #13 Huntington Disease: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1150165-overview

  The prevalence of Huntington disease (HD) in the United States is estimated at about 7 per 100,000. […] The frequency of HD in different countries varies greatly. A few isolated populations of western European origin have an unusually high prevalence of HD that appears to have resulted from a founder effect. These include the Lake Maracaibo region in Venezuela (700 per 100,000 people), the island of Mauritius off the South African coast (46 per 100,000 people), and Tasmania (17.4 per 100,000 people). The prevalence in most European countries ranges from 1.63 to 9.95 per 100,000 people. The prevalence of HD in Finland and Japan is less than 1 per 100,000 people. […] Most studies show a mean age at onset ranging from 35 to 44 years. However, the range is large and varies from 2 years to older than 80 years. Onset in patients younger than 10 years and in patients older than 70 years is rare. The Venezuelan kindreds manifest an earlier mean age of onset (34.35 years) when compared with Americans (37.47 years) and Canadians (40.36 years). Modifying genes and environmental factors are thought to influence the age of onset in these different populations.

• #14 Huntington disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/huntington-disease/

  Peak prevalence: 37 per 100,000 people of Western European descent (compared to 1 per 100,000 people of Asian and African descent) [2]. […] Epidemiological data refers to the US, unless otherwise specified.

• #15 Prevalence and Incidence of Huntington’s Disease: An Updated Systematic Review and Meta‐Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

  Therefore, given the evolving landscape of HD epidemiology and diagnosis, in this study we aimed to update the global prevalence and incidence estimates of HD using epidemiological data published since 2010. […] The overall incidence for the combined metaanalysis was 0.47 cases per 100,000 personyears (95% CI, 0.360.59; I 2 =63%; Q = 44). Subgroup analysis by continent revealed a significantly higher incidence of HD in Europe (0.38 per 100,000 personyears; 95% CI, 0.280.49), North America (1.04 per 100,000 personyears; 95% CI, 0.281.80), and Oceania (0.65 per 100,000 personyears; 95% CI, 0.440.85) compared with Asia (0.08 per 100,000 personyears; 95% CI, 0.030.12). […] The pooled prevalence incorporating all studies from 1985 to 2022 was 3.92 cases per 100,000 (95% CI, 2.905.30; I 2 =50%; Q = 71). Subgroup analysis by continent revealed a significantly higher prevalence of HD in Europe (5.65 per 100,000; 95% CI, 4.317.41), North America (7.43 per 100,000; 95% CI, 4.0813.53), and Oceania (8.61 per 100,000; 95% CI, 4.5516.31) than in Africa (0.25 per 100,000; 95% CI, 0.022.61) and Asia (0.99 per 100,000; 95% CI, 0.332.95).

• #16 Huntington’s disease prevalence in Asia: a systematic review and meta-analysis | Rivista di Psichiatria

  https://www.rivistadipsichiatria.it/archivio/4205/articoli/41943/

  Huntingtons disease prevalence in Asia: a systematic review and meta-analysis […] Summary. Introduction. The epidemiological studies on Huntingtons disease (HD) in the Asian population suggest that prevalence rates are significantly lower than in the Western population. […] The overall prevalence in Asia is PP=0.70 (CI95=0.44-1.0). […] Our study reveals that HD disease affects the population of Asia to a lesser extent than in Europe. […] The plausible explanation for differences in prevalence is that in some countries, the affected individuals will not self-refer to HD screening for fear of social stigma, negative influence in marriage, and lack of genetic and neurological testing. […] Studies conducted before the HD gene was discovered in 1993 may have overestimated the actual incidence by up to 14 per cent globally. […] A systematic meta-analysis review found that the overall prevalence for non-Asian studies was 5.7 per 100,000, while the overall majority for Asian studies was 0.4 per 100,000 people. […] It is thought that an increase in prevalence may be mainly attributable to longer lifespans in the population and maybe longer survival times for HD patients as a result of improved treatment. […] The present studys authors incorporated papers describing molecular processes of diagnosis to account for the differences in epidemiological studies, which would ultimately improve the trustworthiness of epidemiological studies on HD. […] In general, Europeans have a greater HD frequency than East Asian populations. […] According to epidemiological research on HD, prevalence rates in the Asian population are much lower than in the western population. […] To emphasise HDs effects on the Asian population and to compare it to the rest of the globe, this systematic evaluation of epidemiological data on HD prevalence in Asia was conducted. […] The primary goal was to measure HDs prevalence in Asia. The prevalence was computed as the proportion of HD patients in a population of 100,000. […] The PP in Asia results in 0.67 (CI95=0.43-1.04) 100,000 vs Europe 1.63-9.95 100,000, with no statistical difference between PPlower (p=0.40), and a statistically significant difference between PPhigher (p=0.015) hence not allowing to reject Ho2 entirely. […] According to our research, Asia is less affected by Huntingtons disease than Europe. […] Further study is needed to assess the exact prevalence of HD better since both the Asian and Western populations total HD prevalence is underestimated. […]

• #17 Huntington’s disease: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/huntingtons-disease/

  Huntington’s disease affects an estimated 3 to 7 per 100,000 people of European ancestry. The disorder appears to be less common in some other populations, including people of Japanese, Chinese, and African descent. […] Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington’s disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington’s disease (36 repeats or more).

• #18 Prevalence of adult Huntington’s disease in the UK based on diagnoses recorded in general practice records | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/84/10/1156

  The prevalence of Huntington’s disease (HD) in the UK is uncertain. Recently, it has been suggested that the prevalence may be substantially greater than previously reported. […] A total of 1136 patients diagnosed with HD, aged 21 years or more, were identified from the database. The estimated prevalence (expressed per 100000 population) rose from 5.4 (95% CI 3.8 to 7.5) in 1990 to 12.3 (95% CI 11.2 to 13.5) in 2010. […] The prevalence of adult HD was lowest in the London region (5.4 (95% CI 3.0 to 8.9)) and highest in the North East of England (18.3 (95% CI 8.6 to 34.6)) and Scotland (16.1 (95% CI 10.8 to 22.9)). […] The prevalence of diagnosed HD is clearly substantially higher in the UK than suggested from previous studies. […] Our analysis of the data derived from GPRD documents a dramatic and significant increase in the prevalence of HD over the past two decades.

• #19 Prevalence of adult Huntington’s disease in the UK based on diagnoses recorded in general practice records | Journal of Neurology, Neurosurgery & Psychiatry

  https://jnnp.bmj.com/content/84/10/1156

  We noted marked regional variation in prevalence across the UK. This may partly be due to random error but may also reflect genuine regional differences. Previous studies have suggested higher prevalence rates in Scotland. […] There are 46638400 people over the age of 21 years in the UK population. Applying our current prevalence estimate of 12.3 per 100000 argues for more than 5700 people in the UK with diagnosed HD.

• #20 Huntington Disease: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1150165-overview

  The prevalence of Huntington disease (HD) in the United States is estimated at about 7 per 100,000. […] The frequency of HD in different countries varies greatly. A few isolated populations of western European origin have an unusually high prevalence of HD that appears to have resulted from a founder effect. These include the Lake Maracaibo region in Venezuela (700 per 100,000 people), the island of Mauritius off the South African coast (46 per 100,000 people), and Tasmania (17.4 per 100,000 people). The prevalence in most European countries ranges from 1.63 to 9.95 per 100,000 people. The prevalence of HD in Finland and Japan is less than 1 per 100,000 people. […] Most studies show a mean age at onset ranging from 35 to 44 years. However, the range is large and varies from 2 years to older than 80 years. Onset in patients younger than 10 years and in patients older than 70 years is rare. The Venezuelan kindreds manifest an earlier mean age of onset (34.35 years) when compared with Americans (37.47 years) and Canadians (40.36 years). Modifying genes and environmental factors are thought to influence the age of onset in these different populations.

• #21 Huntington Disease: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1150165-overview

  The prevalence of Huntington disease (HD) in the United States is estimated at about 7 per 100,000. […] The frequency of HD in different countries varies greatly. A few isolated populations of western European origin have an unusually high prevalence of HD that appears to have resulted from a founder effect. These include the Lake Maracaibo region in Venezuela (700 per 100,000 people), the island of Mauritius off the South African coast (46 per 100,000 people), and Tasmania (17.4 per 100,000 people). The prevalence in most European countries ranges from 1.63 to 9.95 per 100,000 people. The prevalence of HD in Finland and Japan is less than 1 per 100,000 people. […] Most studies show a mean age at onset ranging from 35 to 44 years. However, the range is large and varies from 2 years to older than 80 years. Onset in patients younger than 10 years and in patients older than 70 years is rare. The Venezuelan kindreds manifest an earlier mean age of onset (34.35 years) when compared with Americans (37.47 years) and Canadians (40.36 years). Modifying genes and environmental factors are thought to influence the age of onset in these different populations.

• #22 Huntington’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Huntington%27s_disease

  The late onset of Huntington’s disease means it does not usually affect reproduction. The worldwide prevalence of HD is 510 cases per 100,000 persons, but varies greatly geographically as a result of ethnicity, local migration and past immigration patterns. Prevalence is similar for men and women. The rate of occurrence is highest in peoples of Western European descent, averaging around seven per 100,000 people, and is lower in the rest of the world; e.g., one per million people of Asian and African descent. A 2013 epidemiological study of the prevalence of Huntington’s disease in the UK between 1990 and 2010 found that the average prevalence for the UK was 12.3 per 100,000. Additionally, some localized areas have a much higher prevalence than their regional average. One of the highest incidences is in the isolated populations of the Lake Maracaibo region of Venezuela, where HD affects up to 700 per 100,000 persons. Other areas of high localization have been found in Tasmania and specific regions of Scotland, Wales and Sweden. Increased prevalence in some cases occurs due to a local founder effect, a historical migration of carriers into an area of geographic isolation. Some of these carriers have been traced back hundreds of years using genealogical studies. Genetic haplotypes can also give clues for the geographic variations of prevalence. Iceland, on the contrary, has a rather low prevalence of 1 per 100,000, despite the fact that Icelanders as a people are descended from the early Germanic tribes of Scandinavia which also gave rise to the Swedes; all cases with the exception of one going back nearly two centuries having derived from the offspring of a couple living early in the 19th century. Finland, as well, has a low incidence of only 2.2 per 100,000 people.

• #23

  https://link.springer.com/article/10.1007/BF00194305

  The available information on the world distribution of Huntington’s disease (HD) from population surveys and death rate analysis is summarised and discussed in the light of genetic studies. It is concluded that most European populations, both Northern and Southern, show a relatively high prevalence (48 per 100,000), and that the disorder may also be frequent in India and parts of central Asia. […] HD is notably rare in Finland and in Japan, but data for Eastern Asia and Africa are inadequate. The disorder may have been underestimated in the American black population. […] Populations derived from recent European immigration show frequencies and origins of HD comparable to those expected from their own origins and expansion; there is no evidence to suggest that the HD gene has spread disproportionally and its selective effect may be close to neutral. Multiple separate introductions of the gene have been the rule in large populations. Several major foci of HD exist as the result of rapid population expansion. It is likely that a number of separate mutations for HD will be shown to be responsible for the disease, but that the high frequency of HD in European populations will prove to be the result of one or a very small number of mutations, probably of great antiquity.

• #24 Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation | Journal of Human Genetics

  https://www.nature.com/articles/jhg2008215

  The aggregation of patients with Huntington’s disease (HD) around Lake Maracaibo, Zulia State, Venezuela, is widely recognized, but the epidemiology of HD in the whole country is relatively unstudied. […] A low (approx. 1/200,000) prevalence, a wide-spread distribution with aggregation in some states and a likely remote European Caucasoid origin are defining epidemiologic features of HD in Venezuela. […] Huntington’s disease shows a striking geographic prevalence and aggregation among residents of the western coast of Lake Maracaibo, Zulia State, Venezuela. […] The complete haplotype that we constructed using six intragenic polymorphisms, five of which lie within a stretch of less than 500 bases, was identical in almost all of the chromosomes carrying the mutation. […] The wide distribution of affected families throughout Venezuela may suggest more than one founder phenomenon for the HD subset of European Caucasoid chromosomes.

• #25 Huntington’s disease – Wikipedia

  https://en.wikipedia.org/wiki/Huntington%27s_disease

  The late onset of Huntington’s disease means it does not usually affect reproduction. The worldwide prevalence of HD is 510 cases per 100,000 persons, but varies greatly geographically as a result of ethnicity, local migration and past immigration patterns. Prevalence is similar for men and women. The rate of occurrence is highest in peoples of Western European descent, averaging around seven per 100,000 people, and is lower in the rest of the world; e.g., one per million people of Asian and African descent. A 2013 epidemiological study of the prevalence of Huntington’s disease in the UK between 1990 and 2010 found that the average prevalence for the UK was 12.3 per 100,000. Additionally, some localized areas have a much higher prevalence than their regional average. One of the highest incidences is in the isolated populations of the Lake Maracaibo region of Venezuela, where HD affects up to 700 per 100,000 persons. Other areas of high localization have been found in Tasmania and specific regions of Scotland, Wales and Sweden. Increased prevalence in some cases occurs due to a local founder effect, a historical migration of carriers into an area of geographic isolation. Some of these carriers have been traced back hundreds of years using genealogical studies. Genetic haplotypes can also give clues for the geographic variations of prevalence. Iceland, on the contrary, has a rather low prevalence of 1 per 100,000, despite the fact that Icelanders as a people are descended from the early Germanic tribes of Scandinavia which also gave rise to the Swedes; all cases with the exception of one going back nearly two centuries having derived from the offspring of a couple living early in the 19th century. Finland, as well, has a low incidence of only 2.2 per 100,000 people.

• #26 Huntington Disease: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1150165-overview

  The prevalence of Huntington disease (HD) in the United States is estimated at about 7 per 100,000. […] The frequency of HD in different countries varies greatly. A few isolated populations of western European origin have an unusually high prevalence of HD that appears to have resulted from a founder effect. These include the Lake Maracaibo region in Venezuela (700 per 100,000 people), the island of Mauritius off the South African coast (46 per 100,000 people), and Tasmania (17.4 per 100,000 people). The prevalence in most European countries ranges from 1.63 to 9.95 per 100,000 people. The prevalence of HD in Finland and Japan is less than 1 per 100,000 people. […] Most studies show a mean age at onset ranging from 35 to 44 years. However, the range is large and varies from 2 years to older than 80 years. Onset in patients younger than 10 years and in patients older than 70 years is rare. The Venezuelan kindreds manifest an earlier mean age of onset (34.35 years) when compared with Americans (37.47 years) and Canadians (40.36 years). Modifying genes and environmental factors are thought to influence the age of onset in these different populations.

• #27 Huntington Disease Dementia: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/289706-overview

  Several epidemiologic studies in the United States, conducted from 19451980, show consistent statistics stating that approximately 30,000 people have HD. […] Recent estimates of the prevalence of HD in the United States are between 5 and 10 people per 100,000. […] HD occurs in various geographic and cultural ethnicities worldwide. The worldwide prevalence of this disorder is 510 cases per 100,000 persons. In North America and Europe, HD has a prevalence of 0.5-9.95 cases per 100,000 individuals. The prevalence of HD in the United Kingdom is currently estimated at 8 cases per 100,000 individuals. In a study by Walker et al in South Wales, a prevalence of 7.61 cases per 100,000 persons was reported. This study was reanalyzed in 1988 and showed the prevalence to be higher (8.85 cases per 100,000 persons), indicating a slight rise over the years. The prevalence in Japan is estimated at 1 case per 100,000 people.

• #28 Prevalence and Incidence of Huntington’s Disease: An Updated Systematic Review and Meta‐Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

  The incidence and prevalence of Huntington’s disease (HD) based on a systematic review and metaanalysis of 20 studies published from 1985 to 2010 was estimated at 0.38 per 100,000 personyears (95% confidence interval [CI], 0.160.94) and 2.71 per 100,000 persons (95% CI, 1.554.72), respectively. […] Since 2010, there have been many new epidemiological studies of HD. We sought to update the global estimates of HD incidence and prevalence using data published up to February 2022 and perform additional analyses based on study continent. […] A total of 33 studies published between 2010 and 2022 were included. Pooled incidence was 0.48 cases per 100,000 personyears (95% CI, 0.330.63). Subgroup analysis by continent demonstrated a significantly higher incidence of HD in Europe and North America than in Asia. Pooled prevalence was 4.88 per 100,000 (95% CI, 3.387.06). Subanalyses by continent demonstrated that the prevalence of HD was significantly higher in Europe and North America than in Africa.

• #29 Incidence of adult Huntington’s disease in the UK: a UK-based primary care study and a systematic review | BMJ Open

  https://bmjopen.bmj.com/content/6/2/e009070

  The prevalence of Huntington’s disease (HD) recorded in the UK primary care records has increased twofold between 1990 and 2010. This investigation was undertaken to assess whether this might be due to an increased incidence. […] The data showed that the incidence of HD has remained constant between 1990 and 2010 with an overall rate of 7.2 (95% CI 6.5 to 7.9) per million person-years. […] The rise in the prevalence of diagnosed HD in the UK, between 1990 and 2010, cannot be attributed to an increase in incidence. Globally, estimates of the incidence of HD show evidence of substantial heterogeneity with consistently lower rates in East Asia and parts of Europe. […] The study provides the most reliable estimates of the incidence of Huntington’s disease (HD), in the UK, between 1990 and 2010.

• #30 Prevalence and Incidence of Huntington’s Disease: An Updated Systematic Review and Meta‐Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

  Therefore, given the evolving landscape of HD epidemiology and diagnosis, in this study we aimed to update the global prevalence and incidence estimates of HD using epidemiological data published since 2010. […] The overall incidence for the combined metaanalysis was 0.47 cases per 100,000 personyears (95% CI, 0.360.59; I 2 =63%; Q = 44). Subgroup analysis by continent revealed a significantly higher incidence of HD in Europe (0.38 per 100,000 personyears; 95% CI, 0.280.49), North America (1.04 per 100,000 personyears; 95% CI, 0.281.80), and Oceania (0.65 per 100,000 personyears; 95% CI, 0.440.85) compared with Asia (0.08 per 100,000 personyears; 95% CI, 0.030.12). […] The pooled prevalence incorporating all studies from 1985 to 2022 was 3.92 cases per 100,000 (95% CI, 2.905.30; I 2 =50%; Q = 71). Subgroup analysis by continent revealed a significantly higher prevalence of HD in Europe (5.65 per 100,000; 95% CI, 4.317.41), North America (7.43 per 100,000; 95% CI, 4.0813.53), and Oceania (8.61 per 100,000; 95% CI, 4.5516.31) than in Africa (0.25 per 100,000; 95% CI, 0.022.61) and Asia (0.99 per 100,000; 95% CI, 0.332.95).

• #31 Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1556-3

  Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research. […] The overall two-year incidence of HD was 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.42.4). The overall two-year prevalence of HD (9.3 per 100,000; 95%-CI: 8.310.4) was higher in men (10.2 per 100,000; 95%-CI: 8.811.9) than in women (8.3 per 100,000; 95%-CI: 7.09.8). […] Based on representative German claims data, a two-year incidence for HD of 1.8 per 100,000 persons and a two-year prevalence of 9.3 per 100,000 persons was observed.

• #32 Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1556-3

  Huntingtons disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. […] Evidence on epidemiology and management of HD is limited, especially for Germany. This study aims to estimate the incidence and prevalence of HD and analyze the current routine care based on German claims data. […] A 2-year incidence of 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.42.4) and a 2-year period prevalence of 9.3 per 100,000 persons (95%-CI: 8.310.4) was observed. The prevalence of HD increased with advancing age, peaking at 6069years (16.8 per 100,000 persons; 95%-CI: 13.421.0) and decreasing afterwards. […] In Germany, information about the epidemiology and management of HD is scarce. […] Current, real-world data could be used to improve healthcare planning in order to better meet the needs of affected patients.

• #33 Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01699-3

  There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. […] This study investigates the validity and accuracy of national and international diagnostic codes for HD in multiple HIS and analyses the epidemiologic trends of HD in the Autonomous Community of Navarre (Spain). […] Overall PPV and sensitivity of combined HIS were 71.8% (95% CI: 59.7, 81.6) and 82.2% (95% CI: 70.1, 90.4), respectively. […] Point prevalence was 4.94 (95% CI: 3.23, 6.65) per 100,000 in December 2017, and showed an annual 6.1% increase from 1991 to 1999. […] Incidence and mortality trends remained stable since 1995-96, with mean annual rates per 100,000 of 0.36 (95% CI: 0.27, 0.47) and 0.23 (95% CI: 0.16, 0.32), respectively. […] HD did not experience true temporary variations in prevalence, incidence or mortality over 23 years of post-molecular testing in our population.

• #34 Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1556-3

  Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research. […] The overall two-year incidence of HD was 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.42.4). The overall two-year prevalence of HD (9.3 per 100,000; 95%-CI: 8.310.4) was higher in men (10.2 per 100,000; 95%-CI: 8.811.9) than in women (8.3 per 100,000; 95%-CI: 7.09.8). […] Based on representative German claims data, a two-year incidence for HD of 1.8 per 100,000 persons and a two-year prevalence of 9.3 per 100,000 persons was observed.

• #35 Huntington Disease Dementia: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/289706-overview

  HD is a progressive disorder, typically lasting approximately 1520 years from onset of symptoms until death. […] No significant differences exist among national and ethnic groups in the number of CAG repeats; however, the higher frequency of HD among white persons and its lower prevalence in other populations, including black persons and Japanese persons, has led to the hypothesis that the mutation responsible for the disease was carried to different parts of the world by immigrant European settlers. […] The fact that the mutation rate for HD is higher than previously estimated and that new mutations may account for as many as 3% of the cases is now apparent; therefore, new mutations, in addition to European migration, may account for the disease’s presence in many different and sometimes isolated communities.

• #36 Huntington Disease: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1150165-overview

  The prevalence of Huntington disease (HD) in the United States is estimated at about 7 per 100,000. […] The frequency of HD in different countries varies greatly. A few isolated populations of western European origin have an unusually high prevalence of HD that appears to have resulted from a founder effect. These include the Lake Maracaibo region in Venezuela (700 per 100,000 people), the island of Mauritius off the South African coast (46 per 100,000 people), and Tasmania (17.4 per 100,000 people). The prevalence in most European countries ranges from 1.63 to 9.95 per 100,000 people. The prevalence of HD in Finland and Japan is less than 1 per 100,000 people. […] Most studies show a mean age at onset ranging from 35 to 44 years. However, the range is large and varies from 2 years to older than 80 years. Onset in patients younger than 10 years and in patients older than 70 years is rare. The Venezuelan kindreds manifest an earlier mean age of onset (34.35 years) when compared with Americans (37.47 years) and Canadians (40.36 years). Modifying genes and environmental factors are thought to influence the age of onset in these different populations.

• #37 Huntington Disease Dementia: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/289706-overview

  HD affects males and females in relatively equal numbers. […] The onset of disease usually occurs in the fourth or fifth decade of life, with a wide range in age from childhood to later years in life. Juvenile onset has a large repeat expansion and occurs most often when the father is the affected parent (a form of genetic anticipation).

• #38 Huntington’s Disease (Causes, Symptoms, and Treatment)

  https://patient.info/doctor/huntingtons-disease-pro

  Huntington’s disease prevalence is estimated at between 1 in 10,000 and 1 in 20,000. […] HD is the most common hereditary neurodegenerative disorder. It is the most common genetic cause of chorea. […] The mean age at onset of Huntington’s disease symptoms is 30-50 years. […] In some cases Huntington’s disease symptoms start before the age of 20 years with behavioural disturbances and learning difficulties at school – juvenile Huntington’s disease (JHD); this is more common when the condition has been inherited from the father.

• #39 Pulsenotes | Huntington’s disease

  https://app.pulsenotes.com/medicine/neurology/notes/huntington-s-disease

  HD is estimated to have a prevalence of 2-5 per 100,000 worldwide. […] Onset tends to be in middle-age with the onset for many between 30-50 however it may develop at an earlier or later age. […] It appears to be less common in asian populations where the normal number of CAG trinucleotide repeats is lower.

• #40 Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1556-3

  Huntingtons disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. […] Evidence on epidemiology and management of HD is limited, especially for Germany. This study aims to estimate the incidence and prevalence of HD and analyze the current routine care based on German claims data. […] A 2-year incidence of 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.42.4) and a 2-year period prevalence of 9.3 per 100,000 persons (95%-CI: 8.310.4) was observed. The prevalence of HD increased with advancing age, peaking at 6069years (16.8 per 100,000 persons; 95%-CI: 13.421.0) and decreasing afterwards. […] In Germany, information about the epidemiology and management of HD is scarce. […] Current, real-world data could be used to improve healthcare planning in order to better meet the needs of affected patients.

• #41 The Prevalence of Juvenile Huntington’s Disease: A Review of the Literature and Meta-Analysis – PLOS Currents Huntington Disease

  https://currents.plos.org/hd/article/the-prevalence-of-juvenile-huntingtons-disease-a-review-of-the-literature-and-meta-analysis/

  Juvenile Huntingtons disease (JHD) is usually defined as Huntingtons disease with an onset 20 years. The proportion of JHD cases reported in studies of Huntingtons disease (HD) varies. A review of the literature found 62 studies that reported the proportion of JHD cases amongst all HD cases. The proportion of JHD cases in these studies ranged from 1% to 15%, and in a meta-analysis the pooled proportion of JHD cases was 4.92% (95% confidence interval of 4.07% to 5.84%). Limiting the analysis to the 25 studies which used multiple methods of ascertainment resulted in a similar pooled proportion of 5.32%, (95% confidence interval 4.18% to 6.60%). […] The prevalence of HD is considered to be approximately 4-10 cases per 100,000 in Caucasian populations but this may be higher. Such variability may be accounted for in part by differences in methods of ascertainment, prevalence method used (period or point prevalence) and diagnostic/age of onset criteria.

• #42 The Prevalence of Juvenile Huntington’s Disease: A Review of the Literature and Meta-Analysis – PLOS Currents Huntington Disease

  https://currents.plos.org/hd/article/the-prevalence-of-juvenile-huntingtons-disease-a-review-of-the-literature-and-meta-analysis/

  Juvenile onset HD is considered to be extremely rare, with few clinicians ever seeing more than one case. In 1981, Hayden summarised the prevalence of JHD, expressed as a percentage of the total number of HD cases surveyed. Presented by country, a mean of 5.7% of HD cases were found to be of juvenile onset, with a range of 1-9.6%. […] The aim of the current study is therefore to update and expand Haydens work, exploring the impact of study level factors on the estimated proportion of HD cases with juvenile onset. […] In the meta-analysis of all the studies identified in this review we estimate the proportion of JHD cases to be 4.92% (95% CI 4.07% 5.84%). […] Eleven studies were reported after 1980, which used multiple methods of ascertainment, and were from economically more developed countries; these gave a slightly lower proportion of 4.81% (95% CI 3.31% 6.58%) and may be considered the most robust estimate to use when considering European and North American populations. […] We have presented a review of the proportion of cases with JHD from 62 studies. Using data from 25 studies after 1980 which were mainly from Northern Europe suggests that the mean proportion of JHD cases is just less than 5%.

• #43 Huntington’s Disease (Causes, Symptoms, and Treatment)

  https://patient.info/doctor/huntingtons-disease-pro

  Huntington’s disease prevalence is estimated at between 1 in 10,000 and 1 in 20,000. […] HD is the most common hereditary neurodegenerative disorder. It is the most common genetic cause of chorea. […] The mean age at onset of Huntington’s disease symptoms is 30-50 years. […] In some cases Huntington’s disease symptoms start before the age of 20 years with behavioural disturbances and learning difficulties at school – juvenile Huntington’s disease (JHD); this is more common when the condition has been inherited from the father.

• #44 Huntington Disease – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559166/

  Huntington disease is a rare neurodegenerative disorder with a worldwide prevalence of 2.7 per 100,000. A high prevalence of 10.6 to 13.7 per 100,000 is observed among populations of Caucasian descent. The prevalence is much lower for Asian and African nations. The prevalence varies amongst geographical locations by more than 10-fold. These differences are largely attributed to ethnic differences in the CAG repeat length. An average CAG repeat length of 18.4 to 18.7 in people of Caucasian descent versus 17.5 to 17.7 in people of East Asian descent has been noted. Over the past decades, the overall prevalence also increased due to longer lifespans and more accurate genetic tests.[6][7][8] […] Studies have found 3 significant categories of risk factors for the onset of the disease. The CAG repeat lengths in the HTT gene, instability of CAG, and genetic modifiers were identified as risk factors.[5]

• #45 HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010229

  Huntington disease (HD) results from CAG expansion in the huntingtin (HTT) gene. Although HD occurs worldwide, there are large geographic differences in its prevalence. The prevalence in populations derived from Europe is 10-100 times greater than in East Asia. […] The highest prevalence rates are reported for Western populations from Europe, where the minimum prevalence is 5 per 100,000. […] The minimum HD prevalence is estimated to be 0.1-0.5 per 100,000 in China and Japan. […] The reasons for the 10-100-fold lower prevalence of HD in China and Japan compared with European populations is not well understood. […] New mutations make a significant contribution to the prevalence of HD. […] The current prevalence of HD in any population is therefore the result of the balance between the incidence of new mutations caused by CAG expansion into the disease range and the incidence of CAG expanded chromosomes eliminated by anticipation.

• #46 HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010229

  The overall prevalence of HD in any population is the balance between the incidence of new mutations for HD and loss of HD chromosomes because of negative selection of very large CAG-tracts that result in juvenile onset HD. […] Despite the similarities in clinical phenotype, the origin of the majority of HD chromosomes in East Asia and Europe are different. The prevalence of HD is 10-100-fold greater in Europe than in East Asia, and the haplogroups that are closely associated with CAG expansion in European populations (haplogroups A1 and A2), are found in up to 47% of a sample of the general population in Europe. In contrast, these haplogroups are absent from populations of Chinese or Japanese descent, and provide an explanation for why the HD prevalence is low in East-Asian populations.

• #47 HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2010229

  Huntington disease (HD) results from CAG expansion in the huntingtin (HTT) gene. Although HD occurs worldwide, there are large geographic differences in its prevalence. The prevalence in populations derived from Europe is 10-100 times greater than in East Asia. […] The highest prevalence rates are reported for Western populations from Europe, where the minimum prevalence is 5 per 100,000. […] The minimum HD prevalence is estimated to be 0.1-0.5 per 100,000 in China and Japan. […] The reasons for the 10-100-fold lower prevalence of HD in China and Japan compared with European populations is not well understood. […] New mutations make a significant contribution to the prevalence of HD. […] The current prevalence of HD in any population is therefore the result of the balance between the incidence of new mutations caused by CAG expansion into the disease range and the incidence of CAG expanded chromosomes eliminated by anticipation.

• #48 Prevalence and Incidence of Huntington’s Disease: An Updated Systematic Review and Meta‐Analysis

  https://pmc.ncbi.nlm.nih.gov/articles/PMC10086981/

  The minor increase in prevalence (more so than incidence) demonstrated in this updated review could relate to the enhanced availability of molecular testing, earlier diagnosis, increased life expectancy, and de novo mutations. […] The pooled incidence of HD based on studies published from 1985 to 2010 has been estimated as 0.38 per 100,000 personyears (95% confidence interval [CI], 0.160.94), with a global overall prevalence of 2.71 per 100,000 (95% CI, 1.554.72). […] More recent studies highlight that there is an increment in prevalence in some regions. […] Variability in case ascertainment may play a role in the regional heterogeneity of reported epidemiological data. […] Since the previously published systematic review and metaanalysis on the global prevalence and incidence of HD, there have been many new epidemiological reports in the literature (particularly since 2016), with expanded utilization of confirmatory genetic testing for case ascertainment.

• #49 Heterogeneity in the Estimated Prevalence of Huntington’s Disease | medRxiv

  https://www.medrxiv.org/content/10.1101/2025.04.09.25325546v1.full-text

  There is significant variation in estimates of Huntingtons Disease (HD) prevalence in different settings. […] Despite this heterogeneity, there continues to be much interest in quantitatively synthesizing prevalence estimates to produce global or regional pooled prevalence values. […] This systematic review was undertaken to describe and assess the sources of heterogeneity in estimated prevalence values, and to consequently evaluate the validity of pooled prevalence values produced. […] A total of 43 studies met the criteria for inclusion in the review. […] Significant clinical and methodological heterogeneity between the included studies is described, including differences in case definitions and ascertainment methods, and in the estimates of disease burden calculated. […] There were differences in the estimated point prevalence between regions and population groups within regions, while the estimated point prevalence was shown to be increasing over time since 1993.

• #50 Huntington’s disease prevalence in Asia: a systematic review and meta-analysis | Rivista di Psichiatria

  https://www.rivistadipsichiatria.it/archivio/4205/articoli/41943/

  Huntingtons disease prevalence in Asia: a systematic review and meta-analysis […] Summary. Introduction. The epidemiological studies on Huntingtons disease (HD) in the Asian population suggest that prevalence rates are significantly lower than in the Western population. […] The overall prevalence in Asia is PP=0.70 (CI95=0.44-1.0). […] Our study reveals that HD disease affects the population of Asia to a lesser extent than in Europe. […] The plausible explanation for differences in prevalence is that in some countries, the affected individuals will not self-refer to HD screening for fear of social stigma, negative influence in marriage, and lack of genetic and neurological testing. […] Studies conducted before the HD gene was discovered in 1993 may have overestimated the actual incidence by up to 14 per cent globally. […] A systematic meta-analysis review found that the overall prevalence for non-Asian studies was 5.7 per 100,000, while the overall majority for Asian studies was 0.4 per 100,000 people. […] It is thought that an increase in prevalence may be mainly attributable to longer lifespans in the population and maybe longer survival times for HD patients as a result of improved treatment. […] The present studys authors incorporated papers describing molecular processes of diagnosis to account for the differences in epidemiological studies, which would ultimately improve the trustworthiness of epidemiological studies on HD. […] In general, Europeans have a greater HD frequency than East Asian populations. […] According to epidemiological research on HD, prevalence rates in the Asian population are much lower than in the western population. […] To emphasise HDs effects on the Asian population and to compare it to the rest of the globe, this systematic evaluation of epidemiological data on HD prevalence in Asia was conducted. […] The primary goal was to measure HDs prevalence in Asia. The prevalence was computed as the proportion of HD patients in a population of 100,000. […] The PP in Asia results in 0.67 (CI95=0.43-1.04) 100,000 vs Europe 1.63-9.95 100,000, with no statistical difference between PPlower (p=0.40), and a statistically significant difference between PPhigher (p=0.015) hence not allowing to reject Ho2 entirely. […] According to our research, Asia is less affected by Huntingtons disease than Europe. […] Further study is needed to assess the exact prevalence of HD better since both the Asian and Western populations total HD prevalence is underestimated. […]

• #51 Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01699-3

  Population-based rare diseases registries are valuable instruments for epidemiological studies on low prevalence genetic diseases, like HD, as long as they include validated data from multiple HIS and genetic/family information. […] Epidemiologic findings show that, on 31st December 2017, the prevalence of manifest HD in Navarre was 4.94 per 100,000, with an average annual incidence rate of 0.36 per 100,000 inhabitants (1995-2017). […] Our study strongly suggests that ascertainment bias may be an important factor that could explain, at least in part, geographic and temporary differences in reported HD prevalence and incidence rates.

• #52 Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01699-3

  There is great heterogeneity on geographic and temporary Huntington disease (HD) epidemiological estimates. […] This study investigates the validity and accuracy of national and international diagnostic codes for HD in multiple HIS and analyses the epidemiologic trends of HD in the Autonomous Community of Navarre (Spain). […] Overall PPV and sensitivity of combined HIS were 71.8% (95% CI: 59.7, 81.6) and 82.2% (95% CI: 70.1, 90.4), respectively. […] Point prevalence was 4.94 (95% CI: 3.23, 6.65) per 100,000 in December 2017, and showed an annual 6.1% increase from 1991 to 1999. […] Incidence and mortality trends remained stable since 1995-96, with mean annual rates per 100,000 of 0.36 (95% CI: 0.27, 0.47) and 0.23 (95% CI: 0.16, 0.32), respectively. […] HD did not experience true temporary variations in prevalence, incidence or mortality over 23 years of post-molecular testing in our population.

• #53 What’s New

  https://www.cdph.ca.gov/Programs/CCDPHP/DCDIC/CDSRB/Pages/Huntington’s-Disease.aspx

  Chronic Disease Surveillance and Research Branch […] California Neurodegenerative Disease Registry (CNDR): Huntingtons Disease (HD) […] Starting on July 1, 2023, Health and Safety Code Section 103871 requires hospital, facility, physician and surgeon, and other health care providers to report to California Department of Public Health (CDPH) each case of a neurodegenerative disease that was designated as reportable by CDPH. However, in light of needed initial onboarding to the reporting systems and corresponding logistics, CDPH will be flexible with the reporting due dates for the first reporting period and will assist providers with the process. All Hospitals, facilitys, physicians and surgeons, or other health care providers diagnosing or providing treatment for a patient with a neurodegenerative disease such as Huntingtons disease (HD) must review the CNDR Neurodegenerative Disease Guide to Reporting (PDF).

• #54 What’s New

  https://www.cdph.ca.gov/Programs/CCDPHP/DCDIC/CDSRB/Pages/Huntington’s-Disease.aspx

  […] […] *CNDR Neurodegenerative Disease Guide to Reporting (PDF). […] **Huntington’s Disease (HD). (n.d.). National Institute of Neurological Disorders and Stroke. […] […] […] Resources for Reporting […] CNDR Neurodegenerative Disease Guide to Reporting (PDF) […] CNDR Electronic and Manual Reporting Registration Form (PDF) […] CalREDIE Neurodegenerative Disease Reporter Account Authorization Form (PDF) […] California Neurodegenerative Disease Registry HL7 CDA EICR Data Elements (xlsx) […] California Neurodegenerative Disease Registry HL7 Electronic Reporting Constraints (xlsx)

• #55

  https://clarivate.com/life-sciences-healthcare/report/epidcg0148-biopharma-huntingtons-disease-epidemiology-epidemiology-dashboard/

  Clarivate Epidemiologys coverage of HD comprises epidemiological estimates of key patient populations in 45 countries worldwide. We report the incidence of HD for each country, as well as annualized case counts projected to the national population. […] All patient populations are forecast over a period of 10 years for the major mature pharmaceutical markets (the United States, France, Germany, Italy, Spain, the United Kingdom, and Japan) and the other countries covered in this report. […] Clarivate Epidemiologys HD forecast will answer the following questions: How will changes in the levels of exposure to known risk or protective factors affect the number of people diagnosed with HD per year? In developing countries, what impact will economic growth and development have on the number of people diagnosed with HD per year? How will improvements in survival change the number of people living with a diagnosis of HD? How will the declining risk of recurrence change the number of people diagnosed with HD per year? How will demographic trends, such as population aging and improving life expectancy, affect the epidemiology of HD over the forecast period?

• #56

  https://clarivate.com/life-sciences-healthcare/report/epidcg0148-biopharma-huntingtons-disease-epidemiology-epidemiology-dashboard/

  Clarivate Epidemiology provides at least 10 years of forecast data for the following HD patient populations: Diagnosed manifest prevalent cases. Diagnosed manifest incident cases. Diagnosed manifest prevalent cases by drug treatment scheme. Diagnosed manifest prevalent cases by stage of disease. Diagnosed prevalent cases. Diagnosed premanifest prevalent cases. Diagnosed prevalent cases at risk. Diagnosed prevalent cases by risk category.

• #57

  https://clarivate.com/life-sciences-healthcare/report/epidcg0148-biopharma-huntingtons-disease-epidemiology-europe/

  Clarivate Epidemiologys coverage of Huntingtons disease (HD) in Europe comprises epidemiological estimates of key patient populations in 12 major mature pharmaceutical markets (Austria, Belgium, Czech Republic, Denmark, Finland, Greece, Netherlands, Norway, Poland, Portugal, Sweden, and Switzerland). We report the prevalence of HD for each country, as well as annualized case counts projected to the national population. […] Clarivate Epidemiologys HD forecast will answer the following questions: How will demographic trends, such as population aging and improving life expectancy, affect the epidemiology of HD over the forecast period? […] In addition to the diagnosed prevalent cases, Clarivate Epidemiology forecasts data for the following HD populations: Diagnosed manifest incident cases. Diagnosed manifest prevalent cases. Diagnosed prevalence at risk. Diagnosed manifest stage I prevalent cases. Diagnosed manifest stage II prevalent cases. Diagnosed manifest stage III prevalent cases. Diagnosed manifest stage IV prevalent cases. Diagnosed manifest stage V prevalent cases. Diagnosed prevalence high risk. Diagnosed prevalence low risk. Diagnosed premanifest prevalent cases. Diagnosed manifest drug-treated prevalent cases.

• #58

  https://clarivate.com/life-sciences-healthcare/report/epidcg0148-biopharma-huntingtons-disease-epidemiology-europe/

  Epidemiology data […] Diagnosed population at risk for Huntingtonu2019s disease […] Diagnosed incident cases of manifest Huntington’s disease […] Diagnosed prevalent cases of Huntingtonu2019s disease […] Diagnosed prevalence of Huntington’s disease by manifest status […] Diagnosed prevalent cases of manifest Huntington’s disease by disease stage […] Drug-treated cases of Huntington’s disease […] Risk / protective factors applied to disease forecast models.

• #59 How Many People Have Huntington Disease? | Huntington Study Group

  https://huntingtonstudygroup.org/hd-insights/how-many-people-have-huntington-disease/

  In recent years, the accuracy of published prevalence estimates for HD has been called into question. The majority of prevalence estimates for HD were conducted prior to the identification of the genetic mutation underlying the disease; with a genetic test now available, diagnosing HD has become more precise. […] While the need to establish new baseline prevalence estimates for HD is apparent, these figures must be frequently revised to determine how the prevalence of HD changes over time. Factors such as the projected demographic shifts in median age and our increasing longevity will likely impact the prevalence of HD in the coming years. […] Accurate prevalence estimates are vital to ensuring that there is appropriate access to clinical services and support for patients and families. Additionally, since medical and research funding is often allocated on the basis of the disease burden on society, it is imperative to know the true prevalence of the disease in order to secure proportional financial support for HD research and care.

• #60 Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1556-3

  Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research. […] The overall two-year incidence of HD was 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.42.4). The overall two-year prevalence of HD (9.3 per 100,000; 95%-CI: 8.310.4) was higher in men (10.2 per 100,000; 95%-CI: 8.811.9) than in women (8.3 per 100,000; 95%-CI: 7.09.8). […] Based on representative German claims data, a two-year incidence for HD of 1.8 per 100,000 persons and a two-year prevalence of 9.3 per 100,000 persons was observed.

• #61 Huntington’s Disease in Egypt: The Need to Move Forward

  https://www.worldneurology.com/post/huntington-s-disease-in-egypt-the-need-to-move-forward

  In conclusion, bold action is much needed in Egypt and all across Africa to promote improved understanding of HD and better care and support for affected persons. Some of the steps involved with achieving this overarching goal include: implementing HD national registries, providing more educational courses and training opportunities, and encouraging regional and international collaboration.

• #62 Huntington Disease: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1150165-overview

  The prevalence of Huntington disease (HD) in the United States is estimated at about 7 per 100,000. […] The frequency of HD in different countries varies greatly. A few isolated populations of western European origin have an unusually high prevalence of HD that appears to have resulted from a founder effect. These include the Lake Maracaibo region in Venezuela (700 per 100,000 people), the island of Mauritius off the South African coast (46 per 100,000 people), and Tasmania (17.4 per 100,000 people). The prevalence in most European countries ranges from 1.63 to 9.95 per 100,000 people. The prevalence of HD in Finland and Japan is less than 1 per 100,000 people. […] Most studies show a mean age at onset ranging from 35 to 44 years. However, the range is large and varies from 2 years to older than 80 years. Onset in patients younger than 10 years and in patients older than 70 years is rare. The Venezuelan kindreds manifest an earlier mean age of onset (34.35 years) when compared with Americans (37.47 years) and Canadians (40.36 years). Modifying genes and environmental factors are thought to influence the age of onset in these different populations.

• #63

  https://clarivate.com/life-sciences-healthcare/report/epidcg0148-biopharma-huntingtons-disease-epidemiology-europe/

  Clarivate Epidemiologys coverage of Huntingtons disease (HD) in Europe comprises epidemiological estimates of key patient populations in 12 major mature pharmaceutical markets (Austria, Belgium, Czech Republic, Denmark, Finland, Greece, Netherlands, Norway, Poland, Portugal, Sweden, and Switzerland). We report the prevalence of HD for each country, as well as annualized case counts projected to the national population. […] Clarivate Epidemiologys HD forecast will answer the following questions: How will demographic trends, such as population aging and improving life expectancy, affect the epidemiology of HD over the forecast period? […] In addition to the diagnosed prevalent cases, Clarivate Epidemiology forecasts data for the following HD populations: Diagnosed manifest incident cases. Diagnosed manifest prevalent cases. Diagnosed prevalence at risk. Diagnosed manifest stage I prevalent cases. Diagnosed manifest stage II prevalent cases. Diagnosed manifest stage III prevalent cases. Diagnosed manifest stage IV prevalent cases. Diagnosed manifest stage V prevalent cases. Diagnosed prevalence high risk. Diagnosed prevalence low risk. Diagnosed premanifest prevalent cases. Diagnosed manifest drug-treated prevalent cases.

• #64 Huntington’s Disease: A Look at the Global Pace – Huntington’s Disease Updates

  https://www.medpagetoday.com/resource-centers/huntingtons-disease-updates/huntingtons-disease-look-global-pace/4743

  Huntington’s disease (HD) is a rare neurological disorder that affects regions of the brain that control movements such as speaking, eating, and walking. […] Past epidemiological studies on HD have shown a pooled incidence of 0.38 per 100,000 person-years and a global prevalence of 2.71 per 100,000 person-years. […] A few, more-recent studies have shown a slight increase in the prevalence of HD, possibly because of the “identification of different HTT gene haplotypes, healthcare accessibility, attitudes that differ on illness-related stigma, migration, and the identification of HD cluster regions, [in addition to] specific determinants [that] remain to be elucidated.” […] The studies included in this report were from North America, South America, Europe, Asia, Africa, and Oceania, which includes Australia, and were published between 2010 and 2022.

• #65 Huntington’s Disease: A Look at the Global Pace – Huntington’s Disease Updates

  https://www.medpagetoday.com/resource-centers/huntingtons-disease-updates/huntingtons-disease-look-global-pace/4743

  Looking at the incidence of HD, the authors found that the pooled incidence from the studies was 0.48 per 100,000 person-years. […] To evaluate the prevalence of HD, the investigators looked at data from 21 countries: Brazil, Cameroon, Canada, Cyprus, Denmark, England, Finland, Germany, Greece, Iceland, Iran, Israel, Italy, Northern Ireland, Scotland, South Africa, South Korea, Spain, Sultanate of Oman, Sweden, and the U.S. The pooled prevalence of HD was 4.88 per 100,000 person-years. […] When the authors compared the estimates from the initial study (1985 to 2010) to those from the current one (2011 to 2022), the prevalence of HD increased modestly over time, and the incidence rose only slightly. […] The authors suggested that future studies should use a variety of data sources and methods to capture cases of HD and explore its epidemiology with precision and accuracy.

• #66 Heterogeneity in the Estimated Prevalence of Huntington’s Disease | medRxiv

  https://www.medrxiv.org/content/10.1101/2025.04.09.25325546v1.full-text

  Wide prediction intervals in the overall pooled point prevalence (95% prediction interval: 0.32 37.55 cases per 100,000), and the European pooled point prevalence (95% prediction interval: 1.64 19.18 cases per 100,000), indicate the scale of heterogeneity between studies and settings. […] Such heterogeneity precludes valid extrapolation of findings to settings in which HD prevalence is unknown, and greatly limits the utility of pooled prevalence values.

• #67 Epidemiology of Huntington’s Disease in Latin America: A Systematic Review and Meta-analysis. – MDS Abstracts

  https://www.mdsabstracts.org/abstract/epidemiology-of-huntingtons-disease-in-latin-america-a-systematic-review-and-meta-analysis/

  Epidemiology of Huntingtons Disease in Latin America: A Systematic Review and Meta-analysis. […] To calculate the pooled prevalence of Huntingtons Disease in Latin America. […] Latin America has played a crucial role in advancing our understanding of the clinical and genetic architecture of Huntingtons disease (HD). […] The overall pooled prevalence was 0.64 per 100,000 (95% confidence interval CI 0.34 to 1.21), for studies examining cluster regions it was 54 per 100,000 (95% CI 34.79 to 84.92), for studies exploring juvenile HD it was 8.7% (95% CI 6.6% to 11.4%), and 5.9% (95% CI 3.9 to 8.9%) for late-onset HD. […] The prevalence of HD appears to be similar across Latin American regions. However, we infer that our findings are underestimates, which could be explained in part by limited research, underdiagnosis of HD due to limited access to molecular testing and the availability of neurologists and movement disorders specialists in these regions. Future research should focus on identifying pathways to improve access to molecular testing and education. Additionally, more studies are needed to understand differences in HD prevalence among different ancestral groups in Latin America.

• #68 Incidence of adult Huntington’s disease in the UK: a UK-based primary care study and a systematic review | BMJ Open

  https://bmjopen.bmj.com/content/6/2/e009070

  The study also provides a comprehensive and contemporary review of the published incidence of HD globally. […] The present systematic review confirms the apparent heterogeneity of the incidence of HD between different populations. Studies undertaken in Eastern Asia show consistently lower estimates of incidence compared with those reported from Australasia, North America and parts of Europe. […] The present study suggests that, over the past two decades, the incidence of HD in the UK has remained constant despite a doubling of the prevalence of HD during this same time period.

• #69 Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data | BMC Neurology | Full Text

  https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-019-1556-3

  Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research. […] The overall two-year incidence of HD was 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.42.4). The overall two-year prevalence of HD (9.3 per 100,000; 95%-CI: 8.310.4) was higher in men (10.2 per 100,000; 95%-CI: 8.811.9) than in women (8.3 per 100,000; 95%-CI: 7.09.8). […] Based on representative German claims data, a two-year incidence for HD of 1.8 per 100,000 persons and a two-year prevalence of 9.3 per 100,000 persons was observed.

• #70 How Many People Have Huntington Disease? | Huntington Study Group

  https://huntingtonstudygroup.org/hd-insights/how-many-people-have-huntington-disease/

  In recent years, the accuracy of published prevalence estimates for HD has been called into question. The majority of prevalence estimates for HD were conducted prior to the identification of the genetic mutation underlying the disease; with a genetic test now available, diagnosing HD has become more precise. […] While the need to establish new baseline prevalence estimates for HD is apparent, these figures must be frequently revised to determine how the prevalence of HD changes over time. Factors such as the projected demographic shifts in median age and our increasing longevity will likely impact the prevalence of HD in the coming years. […] Accurate prevalence estimates are vital to ensuring that there is appropriate access to clinical services and support for patients and families. Additionally, since medical and research funding is often allocated on the basis of the disease burden on society, it is imperative to know the true prevalence of the disease in order to secure proportional financial support for HD research and care.

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