Materiały źródłowe

• #1 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  HutchinsonGilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. […] The aim of this article is to review the most recent findings concerning the epidemiology of premature aging disorders, their genetic basis, and the most recent reports on the frequency of associated diseases. […] HGPS is an extremely rare genetic disorder affecting about one per four to eight million live births. […] More precisely, the reported prevalence rate of the disease is one in eight million births, but if unreported or misdiagnosed cases are taken into account, the estimated birth prevalence is one in four million. […] According to the Progeria Research Foundation database, there are an estimated 200250 children living with progeria worldwide at any one time, and 103 of them have been identified as of April 2013.

• #2 Progeria epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Progeria_epidemiology_and_demographics

  Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease. The incidence of Hutchinson-Gilford progeria syndrome (HGPS) is very rare. The usual age of diagnosis for Hutchinson-Gilford progeria syndrome (HGPS) is around two to three years of age. Approximately 100 cases of Hutchinson-Gilford progeria syndrome (HGPS) have been reported in the literature till now worldwide. […] The incidence of Hutchinson-Gilford progeria syndrome (HGPS) is approximately one in four to eight million births worldwide. […] The incidence of Hutchinson-Gilford progeria syndrome (HGPS) in Netherlands is 1:4,000,000. […] The prevalence of Hutchinson-Gilford progeria syndrome (HGPS) is approximately 1 in 20 million individuals worldwide. […] Hutchinson-Gilford progeria syndrome (HGPS) commonly affects individuals of very younger age rather than older age.

• #3 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  At any given time there are an estimated 200-250 individuals living throughout the world with HGPS. […] It is a very rare disease with a birth prevalence of one in four million. […] Presently, there is a test for HGPS. […] The diagnostic test is genetic in nature and tests for an LMNA mutation and thus confirms a suspected diagnosis of HGPS. […] I call on the medical communities and funding agencies throughout the world to dramatically increase funding for HGPS research. […] Insurance companies and federal agencies must also act accordingly in a manner in which additional funds would be allotted for the treatment of HGPS and the enhancement of the quality of life for HGPS patients and their families.

• #4 Hutchinson-Gilford Progeria Syndrome Market Outlook and Forecast-Thelansis

  https://thelansis.com/reports/hutchinson-gilford-progeria-syndrome-hgps-market-outlook-forecast/

  Hutchinson-Gilford progeria syndrome (HGPS), also called progeria, is a rare, fatal genetic childhood condition with striking features resembling premature aging. […] The prevalence of Progeria or Hutchinson-Gilford progeria syndrome (HGPS) is approximately 1 to 2 cases per 20 million, with around 550 to 650 children living with progeria worldwide. […] KOLs across 8 MM markets from the center of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future treatment paradigm, and Unmet needs. […] Hutchinson-Gilford Progeria Syndrome (HGPS) Epidemiology in US (2021-2032) […] Incidence of Hutchinson-Gilford Progeria Syndrome (HGPS) […] Diagnosed cases […] Treatable Patient Pool […] Epidemiology Trends

• #5 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  HutchinsonGilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. […] The aim of this article is to review the most recent findings concerning the epidemiology of premature aging disorders, their genetic basis, and the most recent reports on the frequency of associated diseases. […] HGPS is an extremely rare genetic disorder affecting about one per four to eight million live births. […] More precisely, the reported prevalence rate of the disease is one in eight million births, but if unreported or misdiagnosed cases are taken into account, the estimated birth prevalence is one in four million. […] According to the Progeria Research Foundation database, there are an estimated 200250 children living with progeria worldwide at any one time, and 103 of them have been identified as of April 2013.

• #6 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  At any given time there are an estimated 200-250 individuals living throughout the world with HGPS. […] It is a very rare disease with a birth prevalence of one in four million. […] Presently, there is a test for HGPS. […] The diagnostic test is genetic in nature and tests for an LMNA mutation and thus confirms a suspected diagnosis of HGPS. […] I call on the medical communities and funding agencies throughout the world to dramatically increase funding for HGPS research. […] Insurance companies and federal agencies must also act accordingly in a manner in which additional funds would be allotted for the treatment of HGPS and the enhancement of the quality of life for HGPS patients and their families.

• #7

  http://www.medsplan.com/Article/Progeria—An-extremely-Rare-Genetic-Aging-Disorder

  Progeria is also termed as Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic condition. Progeria affects the children with striking features resembling premature aging. Its name is derived from the Greek and means 'prematurely old’. It was first described first described in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford. […] At present there are 74 cases of Progeria around the world. It affects approximately 1 in 4 – 8 million newborns and both girls and boys run an equal risk of having Progeria. There are an estimated 200-250 children living with this disease worldwide at any one time. It affects both sexes equally and all races. […] Progeria is usually diagnosed during the second year of life or later, when progeroid signs begin to be noticeable. Making a diagnosis of progeria includes taking a personal and family history, including symptoms, such as poor growth and weight gain, and complete a physical examination.

• #8 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  HutchinsonGilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. […] The aim of this article is to review the most recent findings concerning the epidemiology of premature aging disorders, their genetic basis, and the most recent reports on the frequency of associated diseases. […] HGPS is an extremely rare genetic disorder affecting about one per four to eight million live births. […] More precisely, the reported prevalence rate of the disease is one in eight million births, but if unreported or misdiagnosed cases are taken into account, the estimated birth prevalence is one in four million. […] According to the Progeria Research Foundation database, there are an estimated 200250 children living with progeria worldwide at any one time, and 103 of them have been identified as of April 2013.

• #9 Progeria – Wikipedia

  https://en.wikipedia.org/wiki/Progeria

  A study from the Netherlands has shown an incidence of 1 in 20 million births. […] According to the Progeria Research Foundation, as of September 2020, there are 179 known cases in the world, in 53 countries; 18 of the cases were identified in the United States. […] Hundreds of cases have been reported in medical history since 1886. […] However, the Progeria Research Foundation believes there may be as many as 150 undiagnosed cases worldwide. […] There have been only two cases in which a healthy person was known to carry the LMNA mutation that causes progeria. […] One family from India had four of six children with progeria.

• #10 What is progeria – A.I.Pro.Sa.B.

  https://www.aiprosab.org/en/progeria-english/what-is-progeria/

  Hutchinson-Gilford Progeria (HGPS) is a very rare genetic disease that affects one in every 8 million people born, and has a worldwide incidence of one in every 20 million. […] There are currently only 130 cases of classic progeria (HGPS) recognised worldwide, of which four in Italy. However, this number is underestimated as cases of progeria are often difficult to trace, mostly in third world countries, but sometimes also in more developed countries. Current estimates of the actual number of people with progeria worldwide are around 350 cases.

• #11 group_5_presentation_2_-_progeria – Wiki

  https://wiki.mcmaster.ca/LIFESCI_4M03/group_5_presentation_2_-_progeria

  HPGS is an extremely rare genetic disorder affecting about 1 in 4 million live births, if unreported or misdiagnosed cases are taken into account. […] The reported prevalence rate of the disease is 1 in 8 million births, based on the number of cases (Copped, 2013). […] According to the Progeria Research Foundation database, there are an estimated 350-400 children living with progeria worldwide at any one time. […] As of January 2018, there are a recorded 114 children living with progeria worldwide with numbers steadily increasing as the years go by (http://www.progeriaresearch.org/prf-by-the-numbersprf.html). […] HPGS affects all races; cases of progeria have been discovered in 45 different countries. […] However, 97% of affected patients are white. […] Males are affected 1 times more often than females.

• #12 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  Progeria affects both sexes and all races, and HGPS cases have been discovered in over 40 different countries. […] The disease was named after the reports by Jonathan Hutchinson and Hastings Gilford, the doctors who first described it in England, and it is classified as a segmental progeroid syndrome since multiple organs and tissues replicate phenotypes associated with normal aging. […] The majority of classical HGPS is caused by a de novo point mutation in exon 11 of the LMNA gene. […] The diagnosis of HGPS is based on the recognition of common clinical features and the detection of either the c.1824CT (p.G608G) heterozygous LMNA mutation in the classic form of HGPS, or one of three of the heterozygous LMNA mutations in atypical HGPS. […] WS is a rare autosomal recessive disorder also called adult progeria, and represents the most studied disease model of premature aging in adulthood.

• #13 group_5_presentation_2_-_progeria – Wiki

  https://wiki.mcmaster.ca/LIFESCI_4M03/group_5_presentation_2_-_progeria

  HPGS is an extremely rare genetic disorder affecting about 1 in 4 million live births, if unreported or misdiagnosed cases are taken into account. […] The reported prevalence rate of the disease is 1 in 8 million births, based on the number of cases (Copped, 2013). […] According to the Progeria Research Foundation database, there are an estimated 350-400 children living with progeria worldwide at any one time. […] As of January 2018, there are a recorded 114 children living with progeria worldwide with numbers steadily increasing as the years go by (http://www.progeriaresearch.org/prf-by-the-numbersprf.html). […] HPGS affects all races; cases of progeria have been discovered in 45 different countries. […] However, 97% of affected patients are white. […] Males are affected 1 times more often than females.

• #14 group_5_presentation_2_-_progeria – Wiki

  https://wiki.mcmaster.ca/LIFESCI_4M03/group_5_presentation_2_-_progeria

  HPGS is an extremely rare genetic disorder affecting about 1 in 4 million live births, if unreported or misdiagnosed cases are taken into account. […] The reported prevalence rate of the disease is 1 in 8 million births, based on the number of cases (Copped, 2013). […] According to the Progeria Research Foundation database, there are an estimated 350-400 children living with progeria worldwide at any one time. […] As of January 2018, there are a recorded 114 children living with progeria worldwide with numbers steadily increasing as the years go by (http://www.progeriaresearch.org/prf-by-the-numbersprf.html). […] HPGS affects all races; cases of progeria have been discovered in 45 different countries. […] However, 97% of affected patients are white. […] Males are affected 1 times more often than females.

• #15 Infantile progeria – Altmeyers Encyclopedia – Department Dermatology

  https://www.altmeyers.org/en/dermatology/infantile-progeria-120854

  Very rare, almost exclusively in members of the white race. Incidence: 1/5-15 million births. […] Death mostly before the age of 20 due to consequences of arteriosclerosis (cerebral insults, myocardial infarction)

• #16 Hutchinson–Gilford Progeria Syndrome (HGPS)

  https://flipper.diff.org/app/items/4559

  The reported incidence of HGPS is 1 in 8 million, though the true figure might be closer to 1 in 4 million, taking into consideration unreported or misdiagnosed cases. […] Since 1886, just over 100 cases of HGPS have been reported and currently there are approximately 40 known cases worldwide. […] A literature search of 132 patients gave a ratio of 69 males to 57 females (1.2:1). […] In the 23 living European patients, the sex ratio is equal (11:12).

• #17 Progeria epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Progeria_epidemiology_and_demographics

  Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease. The incidence of Hutchinson-Gilford progeria syndrome (HGPS) is very rare. The usual age of diagnosis for Hutchinson-Gilford progeria syndrome (HGPS) is around two to three years of age. Approximately 100 cases of Hutchinson-Gilford progeria syndrome (HGPS) have been reported in the literature till now worldwide. […] The incidence of Hutchinson-Gilford progeria syndrome (HGPS) is approximately one in four to eight million births worldwide. […] The incidence of Hutchinson-Gilford progeria syndrome (HGPS) in Netherlands is 1:4,000,000. […] The prevalence of Hutchinson-Gilford progeria syndrome (HGPS) is approximately 1 in 20 million individuals worldwide. […] Hutchinson-Gilford progeria syndrome (HGPS) commonly affects individuals of very younger age rather than older age.

• #18 Progeria – Wikipedia

  https://en.wikipedia.org/wiki/Progeria

  A study from the Netherlands has shown an incidence of 1 in 20 million births. […] According to the Progeria Research Foundation, as of September 2020, there are 179 known cases in the world, in 53 countries; 18 of the cases were identified in the United States. […] Hundreds of cases have been reported in medical history since 1886. […] However, the Progeria Research Foundation believes there may be as many as 150 undiagnosed cases worldwide. […] There have been only two cases in which a healthy person was known to carry the LMNA mutation that causes progeria. […] One family from India had four of six children with progeria.

• #19

  https://omim.org/entry/176670

  A number sign (#) is used with this entry because both classic infantile-onset and later childhood-onset Hutchinson-Gilford progeria syndrome (HGPS) are caused by de novo heterozygous mutation in the lamin A gene (LMNA; 150330) on chromosome 1q22. […] Hennekam (2006) stated that the incidence of HGPS was 1 per 8 million newborns in the US between 1915 and 1967 and 1 per 4 million newborns in the Netherlands between 1900 and 2005. Patients have been reported from all continents and all ethnic backgrounds. […] The majority of patients with HGPS have de novo heterozygous dominant mutations in the LMNA gene. Presumably, patients with the disorder do not survive long enough to reproduce (Eriksson et al., 2003; Cao and Hegele, 2003).

• #20 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  Progeria affects both sexes and all races, and HGPS cases have been discovered in over 40 different countries. […] The disease was named after the reports by Jonathan Hutchinson and Hastings Gilford, the doctors who first described it in England, and it is classified as a segmental progeroid syndrome since multiple organs and tissues replicate phenotypes associated with normal aging. […] The majority of classical HGPS is caused by a de novo point mutation in exon 11 of the LMNA gene. […] The diagnosis of HGPS is based on the recognition of common clinical features and the detection of either the c.1824CT (p.G608G) heterozygous LMNA mutation in the classic form of HGPS, or one of three of the heterozygous LMNA mutations in atypical HGPS. […] WS is a rare autosomal recessive disorder also called adult progeria, and represents the most studied disease model of premature aging in adulthood.

• #21 Progeria epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Progeria_epidemiology_and_demographics

  The median age at diagnosis is 2.9 years overall. […] Hutchinson-Gilford progeria syndrome (HGPS) usually affects individuals of the white race. […] Hutchinson-Gilford progeria syndrome (HGPS) affects men and women equally but males are little more commonly affected by Hutchinson-Gilford progeria syndrome than females. […] The male to female ratio is approximately 1.5:1.

• #22 Progeria epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Progeria_epidemiology_and_demographics

  The median age at diagnosis is 2.9 years overall. […] Hutchinson-Gilford progeria syndrome (HGPS) usually affects individuals of the white race. […] Hutchinson-Gilford progeria syndrome (HGPS) affects men and women equally but males are little more commonly affected by Hutchinson-Gilford progeria syndrome than females. […] The male to female ratio is approximately 1.5:1.

• #23 Hutchinson–Gilford Progeria Syndrome (HGPS)

  https://flipper.diff.org/app/items/4559

  The reported incidence of HGPS is 1 in 8 million, though the true figure might be closer to 1 in 4 million, taking into consideration unreported or misdiagnosed cases. […] Since 1886, just over 100 cases of HGPS have been reported and currently there are approximately 40 known cases worldwide. […] A literature search of 132 patients gave a ratio of 69 males to 57 females (1.2:1). […] In the 23 living European patients, the sex ratio is equal (11:12).

• #24 Progeria epidemiology and demographics – wikidoc

  https://www.wikidoc.org/index.php/Progeria_epidemiology_and_demographics

  The median age at diagnosis is 2.9 years overall. […] Hutchinson-Gilford progeria syndrome (HGPS) usually affects individuals of the white race. […] Hutchinson-Gilford progeria syndrome (HGPS) affects men and women equally but males are little more commonly affected by Hutchinson-Gilford progeria syndrome than females. […] The male to female ratio is approximately 1.5:1.

• #25 Progeria overview – wikidoc

  https://www.wikidoc.org/index.php/Progeria_overview

  Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease. The incidence of Hutchinson-Gilford progeria syndrome (HGPS) is very rare. The usual age of diagnosis for Hutchinson-Gilford progeria syndrome (HGPS) is around two to three years of age. Approximately 100 cases of Hutchinson-Gilford progeria syndrome (HGPS) have been reported in the literature till now worldwide. […] The most potent risk factor in the development of Hutchinson-Gilford progeria syndrome is mutation in LMNA gene.

• #26

  http://www.medsplan.com/Article/Progeria—An-extremely-Rare-Genetic-Aging-Disorder

  Progeria is also termed as Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic condition. Progeria affects the children with striking features resembling premature aging. Its name is derived from the Greek and means 'prematurely old’. It was first described first described in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford. […] At present there are 74 cases of Progeria around the world. It affects approximately 1 in 4 – 8 million newborns and both girls and boys run an equal risk of having Progeria. There are an estimated 200-250 children living with this disease worldwide at any one time. It affects both sexes equally and all races. […] Progeria is usually diagnosed during the second year of life or later, when progeroid signs begin to be noticeable. Making a diagnosis of progeria includes taking a personal and family history, including symptoms, such as poor growth and weight gain, and complete a physical examination.

• #27 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  Progeria affects both sexes and all races, and HGPS cases have been discovered in over 40 different countries. […] The disease was named after the reports by Jonathan Hutchinson and Hastings Gilford, the doctors who first described it in England, and it is classified as a segmental progeroid syndrome since multiple organs and tissues replicate phenotypes associated with normal aging. […] The majority of classical HGPS is caused by a de novo point mutation in exon 11 of the LMNA gene. […] The diagnosis of HGPS is based on the recognition of common clinical features and the detection of either the c.1824CT (p.G608G) heterozygous LMNA mutation in the classic form of HGPS, or one of three of the heterozygous LMNA mutations in atypical HGPS. […] WS is a rare autosomal recessive disorder also called adult progeria, and represents the most studied disease model of premature aging in adulthood.

• #28 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  Progeria affects both sexes and all races, and HGPS cases have been discovered in over 40 different countries. […] The disease was named after the reports by Jonathan Hutchinson and Hastings Gilford, the doctors who first described it in England, and it is classified as a segmental progeroid syndrome since multiple organs and tissues replicate phenotypes associated with normal aging. […] The majority of classical HGPS is caused by a de novo point mutation in exon 11 of the LMNA gene. […] The diagnosis of HGPS is based on the recognition of common clinical features and the detection of either the c.1824CT (p.G608G) heterozygous LMNA mutation in the classic form of HGPS, or one of three of the heterozygous LMNA mutations in atypical HGPS. […] WS is a rare autosomal recessive disorder also called adult progeria, and represents the most studied disease model of premature aging in adulthood.

• #29 Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Cha | TACG

  https://www.dovepress.com/hutchinsonndashgilford-progeria-syndrome-clinical-and-molecular-charac-peer-reviewed-fulltext-article-TACG

  HutchinsonGilford progeria syndrome (HGPS) is a rare sporadic autosomal dominant segmental premature aging disease, with a prevalence of 1 in 20 million births in the United States. […] Little is known of the prevalence of HGPS in middle-income-countries, but in 2013, there was a report of 16 cases in Central and South America that described a life expectancy of 13 years of age. […] HGPS follows an autosomal dominant inheritance pattern. But, most patients with HGPS have de novo missense mutation in the LMNA gene leading to activation of a cryptic splice site, which means children do not inherit the disease from their parents. […] These children have a life expectancy of 13.4 years and experience accelerated atherosclerosis usually resulting in early death associated with myocardial infarction or less commonly, stroke.

• #30 Hutchinson-Gilford Progeria Syndrome – CAGS

  https://cags.org.ae/en/ctga-details/126/hutchinson-gilford-progeria-syndrome

  Hutchinson-Gilford progeria syndrome is a rare genetic disorder characterized by many features reminiscent of marked premature aging. […] Gabr et al. (1960) reported several affected sisters from Egypt with progeria. Gabr et al. (1960) suggested a recessive inheritance for the disease since parents of the patients were first cousins. […] Khalifa (1989) described a consanguineous Libyan family in which 2 males and 1 female in 2 sibships related as cousins had seemingly typical Hutchinson-Gilford progeria. Repeated nonhealing fractures were the presenting manifestation in the proband. Due to the established consanguinity of the family, Khalifa (1989) suggested autosomal recessive inheritance for the disease in the patients.

• #31 Progeria – Wikipedia

  https://en.wikipedia.org/wiki/Progeria

  A study from the Netherlands has shown an incidence of 1 in 20 million births. […] According to the Progeria Research Foundation, as of September 2020, there are 179 known cases in the world, in 53 countries; 18 of the cases were identified in the United States. […] Hundreds of cases have been reported in medical history since 1886. […] However, the Progeria Research Foundation believes there may be as many as 150 undiagnosed cases worldwide. […] There have been only two cases in which a healthy person was known to carry the LMNA mutation that causes progeria. […] One family from India had four of six children with progeria.

• #32 Progeria – Wikipedia

  https://en.wikipedia.org/wiki/Progeria

  A study from the Netherlands has shown an incidence of 1 in 20 million births. […] According to the Progeria Research Foundation, as of September 2020, there are 179 known cases in the world, in 53 countries; 18 of the cases were identified in the United States. […] Hundreds of cases have been reported in medical history since 1886. […] However, the Progeria Research Foundation believes there may be as many as 150 undiagnosed cases worldwide. […] There have been only two cases in which a healthy person was known to carry the LMNA mutation that causes progeria. […] One family from India had four of six children with progeria.

• #33 Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Cha | TACG

  https://www.dovepress.com/hutchinsonndashgilford-progeria-syndrome-clinical-and-molecular-charac-peer-reviewed-fulltext-article-TACG

  Although currently, there are no Food and Drug Administration-approved treatments for HGPS, some clinical trials have been directed to test farnesyl transferase inhibitors such as lonafarnib. […] Despite these results, it is important to highlight that farnesylation inhibitors do not reverse the disease and therefore are not curative. […] Therefore, promoting genetic counseling to parents of children with HGPS is essential because prenatal tests are available, and the risk of recurrence is 1 in 500 siblings. […] This study suggests that patients with HGPS should be managed by a multidisciplinary health team that includes a geneticist, cardiologist, and pediatric palliative care, to meet all needs of children with this condition and their families.

• #34 The Dental and Oral Significance of Hutchinson-Gilford Progeria Syndrome

  https://www.scientificarchives.com/article/the-dental-and-oral-significance-of-hutchinsongilford-progeria-syndrome

  At any given time there are an estimated 200-250 individuals living throughout the world with HGPS. […] It is a very rare disease with a birth prevalence of one in four million. […] Presently, there is a test for HGPS. […] The diagnostic test is genetic in nature and tests for an LMNA mutation and thus confirms a suspected diagnosis of HGPS. […] I call on the medical communities and funding agencies throughout the world to dramatically increase funding for HGPS research. […] Insurance companies and federal agencies must also act accordingly in a manner in which additional funds would be allotted for the treatment of HGPS and the enhancement of the quality of life for HGPS patients and their families.

• #35 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Progeria affects approximately 1 in 18 million people. An estimated 400 to 450 children are currently living with progeria worldwide, of all ethnic backgrounds. […] Genetic testing can confirm HGPS when physical signs suggest progeria. […] Our partner, the Progeria Research Foundation (PRF), has spearheaded many research studies on progeria and hosts an International Patient Registry that is providing insights on the natural course of progeria over time. […] In partnership with the Progeria Research Foundation, Boston Childrens has hosted multiple clinical trials of lonafarnib, drawing children from all over the world.

• #36

  http://www.medsplan.com/Article/Progeria—An-extremely-Rare-Genetic-Aging-Disorder

  Progeria is also termed as Hutchinson-Gilford progeria syndrome (HGPS), is an extremely rare genetic condition. Progeria affects the children with striking features resembling premature aging. Its name is derived from the Greek and means 'prematurely old’. It was first described first described in England: in 1886 by Dr. Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford. […] At present there are 74 cases of Progeria around the world. It affects approximately 1 in 4 – 8 million newborns and both girls and boys run an equal risk of having Progeria. There are an estimated 200-250 children living with this disease worldwide at any one time. It affects both sexes equally and all races. […] Progeria is usually diagnosed during the second year of life or later, when progeroid signs begin to be noticeable. Making a diagnosis of progeria includes taking a personal and family history, including symptoms, such as poor growth and weight gain, and complete a physical examination.

• #37 The epidemiology of premature aging and associated comorbidities | CIA

  https://www.dovepress.com/the-epidemiology-of-premature-aging-and-associated-comorbidities-peer-reviewed-fulltext-article-CIA

  HutchinsonGilford Progeria Syndrome and Werner syndrome, also known as childhood- and adulthood-progeria, respectively, represent two of the best characterized human progeroid diseases with clinical features mimicking physiological aging at an early age. […] In parallel, the creation of disease registers and databases provided available data for the design of relatively large-scale epidemiological studies, thereby allowing a better understanding of the nature and frequency of the premature aging-associated signs and symptoms. […] The aim of this article is to review the most recent findings concerning the epidemiology of premature aging disorders, their genetic basis, and the most recent reports on the frequency of associated diseases.

• #38 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Progeria affects approximately 1 in 18 million people. An estimated 400 to 450 children are currently living with progeria worldwide, of all ethnic backgrounds. […] Genetic testing can confirm HGPS when physical signs suggest progeria. […] Our partner, the Progeria Research Foundation (PRF), has spearheaded many research studies on progeria and hosts an International Patient Registry that is providing insights on the natural course of progeria over time. […] In partnership with the Progeria Research Foundation, Boston Childrens has hosted multiple clinical trials of lonafarnib, drawing children from all over the world.

• #39 Metabolomic profiling revels systemic signatures of premature aging induced by Hutchinson-Gilford Progeria Syndrome | bioRxiv

  https://www.biorxiv.org/content/10.1101/554220v1.full-text

  Hutchinson-Gilford Progeria Syndrome (HGPS) is an extremely rare genetic disorder. HGPS children present a high incidence of cardiovascular complications along with altered metabolic processes and accelerated aging process. […] Despite a great increase in the scientific knowledge about HGPS, no specific biomarker is known for HGPS and the underlying molecular mechanisms are not fully understood. […] In the present study, we applied metabolomics to samples from HGPS patients and identified several metabolites from different biological pathways dysregulated. […] In conclusion our data show significant alterations in cellular energy use and availability, in signal transduction, and in lipid metabolites, creating new insights on metabolic alterations associated with premature aging. […] Aiming to evaluate the most relevant metabolic pathways altered in patients with HGPS, pathway analysis was applied.

• #40 Metabolomic profiling revels systemic signatures of premature aging induced by Hutchinson-Gilford Progeria Syndrome | bioRxiv

  https://www.biorxiv.org/content/10.1101/554220v1.full-text

  In summary, the present work applied a powerful metabolomics pipeline based in liquid chromatography coupled to high-resolution mass spectrometry along with multivariate statistics and pathway analysis. We were able to identify putative circulating biomarkers for the disease that may be interesting targets for pharmacological treatment, nutritional supplementation and for diagnosing and follow up of HGPS patients.

• #41 Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies | Aging

  https://www.aging-us.com/article/101508/text

  DNA methylation (DNAm)-based biomarkers of aging have been developed for many tissues and organs. […] When used on fibroblasts from Hutchinson Gilford Progeria Syndrome patients, this age estimator (referred to as the skin blood clock) uncovered an epigenetic age acceleration with a magnitude that is below the sensitivity levels of other DNAm-based biomarkers. […] In spite of clear acceleration of clinical manifestations of aging in HGPS, this is not mirrored in epigenetic age measurements by current DNA methylation-based estimators. […] The original pan-tissue DNAm age estimator did not detect any age acceleration in HGPS individuals. […] By contrast, the application of the novel skin blood clock showed that while DNAm age is highly correlated with chronological age in normal fibroblasts, those from HGPS cases exhibited accelerated epigenetic aging.

• #42 Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome and ex vivo studies | Aging

  https://www.aging-us.com/article/101508/text

  The epigenetic age acceleration effects become particularly pronounced after adjusting for differences in cell population doubling levels and when the analysis was restricted to children who are younger than 10 years old. […] It is to be further noted that the epigenetic age acceleration of HGPS fibroblasts revealed by the skin blood clock escaped detection when measurements were carried out with the pan-tissue clock; indeed, the opposite appears to be the case. […] The ability to use these cells to investigate epigenetic age ex vivo is paramount if we are to identify constituents of the epigenetic clock and elucidate how they function together to drive the ticking of the clock.

• #43 Progeria (Hutchinson-Gilford Progeria Syndrome — HGPS): Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/17850-progeria

  Progeria is a rare genetic condition that can affect anyone. […] Progeria is extremely rare. It occurs in 1 in every 4 million live births worldwide. About 400 children and young adults around the world currently live with progeria. […] Progeria is a fatal condition that causes early death. The average life expectancy of a person with progeria is 14.5 years. However, some children die as young as 6 years old, and some adults with progeria live into their early 20s. […] Death typically occurs as a result of complications from atherosclerosis. More than 80% of deaths are due to heart failure and/or heart attack. Treatment with the drug lonafarnib has shown promising results and has extended the life of people with progeria by two-and-a-half years.

• #44 Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Cha | TACG

  https://www.dovepress.com/hutchinsonndashgilford-progeria-syndrome-clinical-and-molecular-charac-peer-reviewed-fulltext-article-TACG

  HutchinsonGilford progeria syndrome (HGPS) is a rare sporadic autosomal dominant segmental premature aging disease, with a prevalence of 1 in 20 million births in the United States. […] Little is known of the prevalence of HGPS in middle-income-countries, but in 2013, there was a report of 16 cases in Central and South America that described a life expectancy of 13 years of age. […] HGPS follows an autosomal dominant inheritance pattern. But, most patients with HGPS have de novo missense mutation in the LMNA gene leading to activation of a cryptic splice site, which means children do not inherit the disease from their parents. […] These children have a life expectancy of 13.4 years and experience accelerated atherosclerosis usually resulting in early death associated with myocardial infarction or less commonly, stroke.

• #45 A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy

  https://www.imrpress.com/journal/fbs/3/3/10.2741/216

  A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy […] Hutchinson-Gilford progeria syndrome (HGPS), a devastating disorder that causes the death of affected children at an average age of 13.5 years, predominantly from premature atherosclerosis and myocardial infarction or stroke. […] Therefore, understanding how this mutant form of lamin A provokes HGPS may shed significant insight into physiological aging. […] In this review, we discuss recent advances into the pathogenic mechanisms underlying HGPS, the main murine models of the disease, and the therapeutic strategies developed in cellular and animal models with the aim of reducing the accumulation of farnesylated-progerin, as well as their use in clinical trials of HGPS.

• #46 Progeria (Hutchinson-Gilford Progeria Syndrome — HGPS): Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/17850-progeria

  Progeria is a rare genetic condition that can affect anyone. […] Progeria is extremely rare. It occurs in 1 in every 4 million live births worldwide. About 400 children and young adults around the world currently live with progeria. […] Progeria is a fatal condition that causes early death. The average life expectancy of a person with progeria is 14.5 years. However, some children die as young as 6 years old, and some adults with progeria live into their early 20s. […] Death typically occurs as a result of complications from atherosclerosis. More than 80% of deaths are due to heart failure and/or heart attack. Treatment with the drug lonafarnib has shown promising results and has extended the life of people with progeria by two-and-a-half years.

• #47 Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Cha | TACG

  https://www.dovepress.com/hutchinsonndashgilford-progeria-syndrome-clinical-and-molecular-charac-peer-reviewed-fulltext-article-TACG

  HutchinsonGilford progeria syndrome (HGPS) is a rare sporadic autosomal dominant segmental premature aging disease, with a prevalence of 1 in 20 million births in the United States. […] Little is known of the prevalence of HGPS in middle-income-countries, but in 2013, there was a report of 16 cases in Central and South America that described a life expectancy of 13 years of age. […] HGPS follows an autosomal dominant inheritance pattern. But, most patients with HGPS have de novo missense mutation in the LMNA gene leading to activation of a cryptic splice site, which means children do not inherit the disease from their parents. […] These children have a life expectancy of 13.4 years and experience accelerated atherosclerosis usually resulting in early death associated with myocardial infarction or less commonly, stroke.

• #48 group_5_presentation_2_-_progeria – Wiki

  https://wiki.mcmaster.ca/LIFESCI_4M03/group_5_presentation_2_-_progeria

  The disease was thought to be autosomal recessive in the past, however observations made an autosomal recessive inheritance very unlikely and favour a sporadic, dominant mutation. […] The mutation results in life spans for progeria syndrome to be in the second/third decades of life, with the majority of patients dying of cardiovascular or cerebrovascular disease between 7 and 27 years of age (Sarkar and Shinton, 2001).

• #49 Disease pathogenicity in Hutchinson–Gilford progeria syndrome mice: insights from lung-associated alterations | Molecular Medicine | Full Text

  https://molmed.biomedcentral.com/articles/10.1186/s10020-025-01165-x

  HutchinsonGilford progeria syndrome (HGPS) is a rare genetic disorder characterized by accelerated aging, impaired growth, disrupted lipid metabolism, and reduced lifespan. […] Our findings suggest that pulmonary abnormalities may contribute to disease progression, warranting further investigation into their role in HGPS monitoring and management. […] Pulmonary function assessments revealed substantial impairments in ventilation among HGPS patients, as indicated by significant reductions in forced vital capacity (FVC), exhalation volume (FEV1), and peak expiratory flow (PEF) compared to healthy controls. These findings suggest that pulmonary dysfunction is a prominent feature of HGPS, HGPS-like or Atypical Progeria Syndrome, further supporting our observations from the mouse model and highlighting the need for closer respiratory monitoring in HGPS patients.

• #50 Long-term survival in a patient with Hutchinson-Gilford progeria syndrome and osteosarcoma: A case report

  https://www.wjgnet.com/2307-8960/full/v9/i4/854.htm

  Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by the rapid appearance of aging with an onset in childhood. […] Based on previous studies, the prevalence of HGPS is estimated to be approximately 1 in 18 million. […] There are no reports of an increased cancer incidence in HGPS patients, but there are several case reports of osteosarcoma in HGPS patients. […] Considering the prevalence of osteosarcoma (3 cases/million population/year) and total number of HGPS patients, the incidence of malignancy in HGPS is higher than average. […] The standard surgery for osteosarcoma patients consists of wide resection and reconstruction with megaprosthesis or biological methods. […] Prosthetic replacement following wide resection of an osteosarcoma is the most common method to reconstruct a large bony defect. […] The incidence of long-term complications, such as infections, loosening, and breakage requiring revision surgery, remains unavoidable. […] A biological reconstruction method is recommended to manage post-operative complications.

• #51 Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Cha | TACG

  https://www.dovepress.com/hutchinsonndashgilford-progeria-syndrome-clinical-and-molecular-charac-peer-reviewed-fulltext-article-TACG

  Although currently, there are no Food and Drug Administration-approved treatments for HGPS, some clinical trials have been directed to test farnesyl transferase inhibitors such as lonafarnib. […] Despite these results, it is important to highlight that farnesylation inhibitors do not reverse the disease and therefore are not curative. […] Therefore, promoting genetic counseling to parents of children with HGPS is essential because prenatal tests are available, and the risk of recurrence is 1 in 500 siblings. […] This study suggests that patients with HGPS should be managed by a multidisciplinary health team that includes a geneticist, cardiologist, and pediatric palliative care, to meet all needs of children with this condition and their families.

• #52 Progeria (Hutchinson-Gilford Progeria Syndrome — HGPS): Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/17850-progeria

  Progeria is a rare genetic condition that can affect anyone. […] Progeria is extremely rare. It occurs in 1 in every 4 million live births worldwide. About 400 children and young adults around the world currently live with progeria. […] Progeria is a fatal condition that causes early death. The average life expectancy of a person with progeria is 14.5 years. However, some children die as young as 6 years old, and some adults with progeria live into their early 20s. […] Death typically occurs as a result of complications from atherosclerosis. More than 80% of deaths are due to heart failure and/or heart attack. Treatment with the drug lonafarnib has shown promising results and has extended the life of people with progeria by two-and-a-half years.

• #53 Progeria (Hutchinson-Gilford Progeria Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/progeria

  Progeria affects approximately 1 in 18 million people. An estimated 400 to 450 children are currently living with progeria worldwide, of all ethnic backgrounds. […] Genetic testing can confirm HGPS when physical signs suggest progeria. […] Our partner, the Progeria Research Foundation (PRF), has spearheaded many research studies on progeria and hosts an International Patient Registry that is providing insights on the natural course of progeria over time. […] In partnership with the Progeria Research Foundation, Boston Childrens has hosted multiple clinical trials of lonafarnib, drawing children from all over the world.

• #54 Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Cha | TACG

  https://www.dovepress.com/hutchinsonndashgilford-progeria-syndrome-clinical-and-molecular-charac-peer-reviewed-fulltext-article-TACG

  Although currently, there are no Food and Drug Administration-approved treatments for HGPS, some clinical trials have been directed to test farnesyl transferase inhibitors such as lonafarnib. […] Despite these results, it is important to highlight that farnesylation inhibitors do not reverse the disease and therefore are not curative. […] Therefore, promoting genetic counseling to parents of children with HGPS is essential because prenatal tests are available, and the risk of recurrence is 1 in 500 siblings. […] This study suggests that patients with HGPS should be managed by a multidisciplinary health team that includes a geneticist, cardiologist, and pediatric palliative care, to meet all needs of children with this condition and their families.

• #55

  https://www.cnic.es/en/noticias/pnas-cnic-scientists-identify-key-cell-type-strategies-prevent-atherosclerosis-progeria

  Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease that affects just 1 in every 20 million people; it is estimated that fewer than 400 children in the world have the disease. […] HGPS currently has no cure, and there is thus an urgent need for new treatments to prevent the atherosclerosis and other vascular alterations associated with the disease and to increase life expectancy. […] The optimization of gene therapy for possible treatment of HGPS patients will require the identification of the cell types in which elimination of progerin produces the most benefit. […] The results of the new study are published in The Proceedings of the National Academy of Sciences. […] These results suggest that correcting the culprit HGPS mutation in vascular smooth muscle cells could be enough to produce a significant therapeutic benefit, said Dr. Benedicto. […] It is therefore important to continue research in order to gain knowledge about the mechanisms through which progerin accelerates aging in HGPS, develop new treatments, and, eventually, cure this disease.

• #56

  https://www.cnic.es/en/noticias/pnas-cnic-scientists-identify-key-cell-type-strategies-prevent-atherosclerosis-progeria

  Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease that affects just 1 in every 20 million people; it is estimated that fewer than 400 children in the world have the disease. […] HGPS currently has no cure, and there is thus an urgent need for new treatments to prevent the atherosclerosis and other vascular alterations associated with the disease and to increase life expectancy. […] The optimization of gene therapy for possible treatment of HGPS patients will require the identification of the cell types in which elimination of progerin produces the most benefit. […] The results of the new study are published in The Proceedings of the National Academy of Sciences. […] These results suggest that correcting the culprit HGPS mutation in vascular smooth muscle cells could be enough to produce a significant therapeutic benefit, said Dr. Benedicto. […] It is therefore important to continue research in order to gain knowledge about the mechanisms through which progerin accelerates aging in HGPS, develop new treatments, and, eventually, cure this disease.

• #57

  https://www.cnic.es/en/noticias/pnas-cnic-scientists-identify-key-cell-type-strategies-prevent-atherosclerosis-progeria

  Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease that affects just 1 in every 20 million people; it is estimated that fewer than 400 children in the world have the disease. […] HGPS currently has no cure, and there is thus an urgent need for new treatments to prevent the atherosclerosis and other vascular alterations associated with the disease and to increase life expectancy. […] The optimization of gene therapy for possible treatment of HGPS patients will require the identification of the cell types in which elimination of progerin produces the most benefit. […] The results of the new study are published in The Proceedings of the National Academy of Sciences. […] These results suggest that correcting the culprit HGPS mutation in vascular smooth muscle cells could be enough to produce a significant therapeutic benefit, said Dr. Benedicto. […] It is therefore important to continue research in order to gain knowledge about the mechanisms through which progerin accelerates aging in HGPS, develop new treatments, and, eventually, cure this disease.

• #58 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  Progeria affects both sexes and all races, and HGPS cases have been discovered in over 40 different countries. […] The disease was named after the reports by Jonathan Hutchinson and Hastings Gilford, the doctors who first described it in England, and it is classified as a segmental progeroid syndrome since multiple organs and tissues replicate phenotypes associated with normal aging. […] The majority of classical HGPS is caused by a de novo point mutation in exon 11 of the LMNA gene. […] The diagnosis of HGPS is based on the recognition of common clinical features and the detection of either the c.1824CT (p.G608G) heterozygous LMNA mutation in the classic form of HGPS, or one of three of the heterozygous LMNA mutations in atypical HGPS. […] WS is a rare autosomal recessive disorder also called adult progeria, and represents the most studied disease model of premature aging in adulthood.

• #59 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  The frequency of WS has been roughly estimated to be 1:100,000. […] Outside of Japan the disease prevalence is estimated to be approximately 1:1,000,0001:10,000,000. […] The syndrome was first described in the doctoral thesis of Werner in 1904. […] According to a recent report, 1,487 WS cases have been recorded from 1904 to the end of 2008 1,128 in Japan and 359 outside Japan. […] The disease is caused by mutations of the WRN gene, which encodes the WRN protein, a member of the RecQ DNA helicase family. […] In 20% of cases, WS is not caused by WRN gene mutations, but often by mutations in the LMNA gene. […] The lack of a pubertal growth spurt during the teen years is the first clinical sign in WS individuals, leading to a characteristic short stature and low bodyweight. […] A recent epidemiological study of 196 cases revealed that greying or loss of hair, bird-like faces, cataracts, and skin atrophy were present in 93% to 99%.

• #60 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  The frequency of WS has been roughly estimated to be 1:100,000. […] Outside of Japan the disease prevalence is estimated to be approximately 1:1,000,0001:10,000,000. […] The syndrome was first described in the doctoral thesis of Werner in 1904. […] According to a recent report, 1,487 WS cases have been recorded from 1904 to the end of 2008 1,128 in Japan and 359 outside Japan. […] The disease is caused by mutations of the WRN gene, which encodes the WRN protein, a member of the RecQ DNA helicase family. […] In 20% of cases, WS is not caused by WRN gene mutations, but often by mutations in the LMNA gene. […] The lack of a pubertal growth spurt during the teen years is the first clinical sign in WS individuals, leading to a characteristic short stature and low bodyweight. […] A recent epidemiological study of 196 cases revealed that greying or loss of hair, bird-like faces, cataracts, and skin atrophy were present in 93% to 99%.

• #61 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  The frequency of WS has been roughly estimated to be 1:100,000. […] Outside of Japan the disease prevalence is estimated to be approximately 1:1,000,0001:10,000,000. […] The syndrome was first described in the doctoral thesis of Werner in 1904. […] According to a recent report, 1,487 WS cases have been recorded from 1904 to the end of 2008 1,128 in Japan and 359 outside Japan. […] The disease is caused by mutations of the WRN gene, which encodes the WRN protein, a member of the RecQ DNA helicase family. […] In 20% of cases, WS is not caused by WRN gene mutations, but often by mutations in the LMNA gene. […] The lack of a pubertal growth spurt during the teen years is the first clinical sign in WS individuals, leading to a characteristic short stature and low bodyweight. […] A recent epidemiological study of 196 cases revealed that greying or loss of hair, bird-like faces, cataracts, and skin atrophy were present in 93% to 99%.

• #62 Werner Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1114125-overview

  Werner syndrome (WS) is a rare disorder. The estimated incidence is 1 case in 1 million individuals. […] WS is more common in Japan and Sardinia than in other regions. About 1000 cases are reported in the world; more than 800 of these cases are in Japan. Approximately 30% of 116 Japanese patients were noted to be the product of a consanguineous marriage. […] No racial predilection is reported. Both sexes are affected equally. The onset of WS might occur in individuals in their mid teens, or it may be delayed until an individual is as old as 30 years. The average age of patients at the time of diagnosis is 37 years.

• #63 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  The frequency of WS has been roughly estimated to be 1:100,000. […] Outside of Japan the disease prevalence is estimated to be approximately 1:1,000,0001:10,000,000. […] The syndrome was first described in the doctoral thesis of Werner in 1904. […] According to a recent report, 1,487 WS cases have been recorded from 1904 to the end of 2008 1,128 in Japan and 359 outside Japan. […] The disease is caused by mutations of the WRN gene, which encodes the WRN protein, a member of the RecQ DNA helicase family. […] In 20% of cases, WS is not caused by WRN gene mutations, but often by mutations in the LMNA gene. […] The lack of a pubertal growth spurt during the teen years is the first clinical sign in WS individuals, leading to a characteristic short stature and low bodyweight. […] A recent epidemiological study of 196 cases revealed that greying or loss of hair, bird-like faces, cataracts, and skin atrophy were present in 93% to 99%.

• #64 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  The frequency of WS has been roughly estimated to be 1:100,000. […] Outside of Japan the disease prevalence is estimated to be approximately 1:1,000,0001:10,000,000. […] The syndrome was first described in the doctoral thesis of Werner in 1904. […] According to a recent report, 1,487 WS cases have been recorded from 1904 to the end of 2008 1,128 in Japan and 359 outside Japan. […] The disease is caused by mutations of the WRN gene, which encodes the WRN protein, a member of the RecQ DNA helicase family. […] In 20% of cases, WS is not caused by WRN gene mutations, but often by mutations in the LMNA gene. […] The lack of a pubertal growth spurt during the teen years is the first clinical sign in WS individuals, leading to a characteristic short stature and low bodyweight. […] A recent epidemiological study of 196 cases revealed that greying or loss of hair, bird-like faces, cataracts, and skin atrophy were present in 93% to 99%.

• #65 Werner Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1114125-overview

  Werner syndrome (WS) is a rare disorder. The estimated incidence is 1 case in 1 million individuals. […] WS is more common in Japan and Sardinia than in other regions. About 1000 cases are reported in the world; more than 800 of these cases are in Japan. Approximately 30% of 116 Japanese patients were noted to be the product of a consanguineous marriage. […] No racial predilection is reported. Both sexes are affected equally. The onset of WS might occur in individuals in their mid teens, or it may be delayed until an individual is as old as 30 years. The average age of patients at the time of diagnosis is 37 years.

• #66 Werner Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1114125-overview

  Werner syndrome (WS) is a rare disorder. The estimated incidence is 1 case in 1 million individuals. […] WS is more common in Japan and Sardinia than in other regions. About 1000 cases are reported in the world; more than 800 of these cases are in Japan. Approximately 30% of 116 Japanese patients were noted to be the product of a consanguineous marriage. […] No racial predilection is reported. Both sexes are affected equally. The onset of WS might occur in individuals in their mid teens, or it may be delayed until an individual is as old as 30 years. The average age of patients at the time of diagnosis is 37 years.

• #67 Werner Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1114125-overview

  Werner syndrome (WS) is a rare disorder. The estimated incidence is 1 case in 1 million individuals. […] WS is more common in Japan and Sardinia than in other regions. About 1000 cases are reported in the world; more than 800 of these cases are in Japan. Approximately 30% of 116 Japanese patients were noted to be the product of a consanguineous marriage. […] No racial predilection is reported. Both sexes are affected equally. The onset of WS might occur in individuals in their mid teens, or it may be delayed until an individual is as old as 30 years. The average age of patients at the time of diagnosis is 37 years.

• #68 Werner syndrome – UpToDate

  https://www.uptodate.com/contents/werner-syndrome/print

  Individuals with Werner syndrome (WS) have been reported worldwide. Males and females are diagnosed in equal numbers. The estimated incidence ranges from <1 per 100,000 births to 1 per 10,000. Geographic case and family clusters of WS often reflect local founder pathogenic variants of WRN and have been reported in Japan, Sardinia, India, and Pakistan. [...] In a study of 9019 individuals from the combined Exome Sequencing Project/1000 Genomes Project datasets designed to capture genetic variation in geographic and ancestrally diverse populations, the pathogenic WRN allele carrier frequency was estimated to be approximately 2 percent. Carriers were virtually all heterozygotes, with the exception of four putative homozygous individuals. This high population prevalence of known pathogenic WRN variants, despite the apparent rarity of WS, supports the hypothesis that WS is clinically under-recognized and underdiagnosed.

• #69 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  For several years, the clinical diagnosis of WS was based on the presence of four cardinal signs (cataracts, skin changes, short stature, and greying or loss of hair), which are observable in more than 95% of the cases, as well as on additional signs. […] Following more recent observations, revised diagnostic criteria have been proposed, including the following cardinal signs and symptoms. […] Complications caused by atherosclerosis and cancer represent the major cause of death in WS subjects. […] According to recent trend analyses, atherosclerosis in WS subjects might result from either abnormal lipid metabolism, or from inflammatory mechanisms. […] A trend analysis in Japan revealed that the average age of onset of malignancy in WS increased from 37 years old in 1966 to 49 years old in 2008. […] The advancements in diagnostic examination techniques, and the creation of disease registers or databases allowing large casecontrol epidemiological studies in both HGPS and WS patients, have led to a better understanding of the epidemiology of disease-associated signs and symptoms.

• #70 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  For several years, the clinical diagnosis of WS was based on the presence of four cardinal signs (cataracts, skin changes, short stature, and greying or loss of hair), which are observable in more than 95% of the cases, as well as on additional signs. […] Following more recent observations, revised diagnostic criteria have been proposed, including the following cardinal signs and symptoms. […] Complications caused by atherosclerosis and cancer represent the major cause of death in WS subjects. […] According to recent trend analyses, atherosclerosis in WS subjects might result from either abnormal lipid metabolism, or from inflammatory mechanisms. […] A trend analysis in Japan revealed that the average age of onset of malignancy in WS increased from 37 years old in 1966 to 49 years old in 2008. […] The advancements in diagnostic examination techniques, and the creation of disease registers or databases allowing large casecontrol epidemiological studies in both HGPS and WS patients, have led to a better understanding of the epidemiology of disease-associated signs and symptoms.

• #71 The epidemiology of premature aging and associated comorbidities

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3760297/

  For several years, the clinical diagnosis of WS was based on the presence of four cardinal signs (cataracts, skin changes, short stature, and greying or loss of hair), which are observable in more than 95% of the cases, as well as on additional signs. […] Following more recent observations, revised diagnostic criteria have been proposed, including the following cardinal signs and symptoms. […] Complications caused by atherosclerosis and cancer represent the major cause of death in WS subjects. […] According to recent trend analyses, atherosclerosis in WS subjects might result from either abnormal lipid metabolism, or from inflammatory mechanisms. […] A trend analysis in Japan revealed that the average age of onset of malignancy in WS increased from 37 years old in 1966 to 49 years old in 2008. […] The advancements in diagnostic examination techniques, and the creation of disease registers or databases allowing large casecontrol epidemiological studies in both HGPS and WS patients, have led to a better understanding of the epidemiology of disease-associated signs and symptoms.

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