Materiały źródłowe

• #1 Huntington’s disease: diagnosis and management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/34413240/

  Huntington’s disease (HD) is an inherited neurodegenerative disease characterised by neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and progressive cognitive impairment. The diagnosis is usually confirmed through identification of an increased CAG repeat length in the huntingtin gene in a patient with clinical features of the condition. […] Though diagnosis is usually straightforward, unusual presentations can occur, and it can be difficult to know when someone has transitioned from being an asymptomatic carrier into the disease state. […] A growing number of conditions can mimic HD, including rare genetic causes, which must be considered in the event of a negative HD genetic test. […] Patients are best managed in specialist multidisciplinary clinics, including when considering genetic testing.

• #2 Huntington’s disease: diagnosis and management | Practical Neurology

  https://pn.bmj.com/content/22/1/32

  Huntingtons disease (HD) is an inherited neurodegenerative disease characterised by neuropsychiatric symptoms, a movement disorder (most commonly choreiform) and progressive cognitive impairment. The diagnosis is usually confirmed through identification of an increased CAG repeat length in the huntingtin gene in a patient with clinical features of the condition. […] Though diagnosis is usually straightforward, unusual presentations can occur, and it can be difficult to know when someone has transitioned from being an asymptomatic carrier into the disease state. […] A growing number of conditions can mimic HD, including rare genetic causes, which must be considered in the event of a negative HD genetic test. […] Patients are best managed in specialist multidisciplinary clinics, including when considering genetic testing.

• #3 Huntington’s disease – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20356122

  A preliminary diagnosis of Huntington’s disease is based on your answers to questions, a general physical exam and your family medical history. Neurological tests and an evaluation of your mental health also is done. […] The neurologist also may perform standardized tests to check your: Memory. Reasoning. Mental agility. Language skills. Spatial reasoning. […] If symptoms strongly suggest Huntington’s disease, members of your healthcare team may recommend a genetic test for the nontypical gene. This test can confirm the diagnosis. […] A genetic test can be given if you have a family history of the disease but don’t have symptoms. This is called predictive testing. The test can’t tell you when the disease will begin or what symptoms will appear first. […] Brain-imaging tests can provide information on the structure or function of the brain. These tests may include MRI or CT scans that show detailed images of the brain. […] These images may reveal changes in the brain in areas affected by Huntington’s disease. These changes may not show up early in the course of the disease. These tests also can be used to rule out other conditions that may be causing symptoms.

• #4 Huntington Disease Causes and Diagnoses | Northwestern Medicine

  https://www.nm.org/conditions-and-care-areas/neurosciences/movement-disorders/huntingtons-disease/causes-and-diagnoses

  Many symptoms of Huntingtons disease are the same as those caused by other diseases. An accurate diagnosis usually requires a detailed physical and neurological examination, including a family history. […] Blood tests, specifically genetic testing, can determine the likelihood of developing Huntingtons disease. […] For people interested in establishing care for HD, or being assessed clinically for HD related symptoms, a comprehensive HD clinic evaluation will include a meeting with a movement disorders neurologist, a neuropsychiatrist, a genetics counselor, and a social worker. […] Diagnostic Tests include Blood Tests, Computed Tomography (CT), and Magnetic Resonance Imaging (MRI).

• #5 Huntington’s disease – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117

  See your healthcare professional if you notice changes in your movements, emotional state or mental ability. The symptoms of Huntington’s disease also can be caused by a number of different conditions. Therefore, it’s important to get a prompt and thorough diagnosis. […] Huntington’s disease is caused by a difference in a single gene that’s passed down from a parent. Huntington’s disease follows an autosomal dominant inheritance pattern. This means that a person needs only one copy of the nontypical gene to develop the disorder. […] People who have a parent with Huntington’s disease are at risk of having the disease themselves. Children of a parent with Huntington’s have a 50 percent chance of having the gene change that causes Huntington’s. […] If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor explains the potential risks of a positive test result, which may mean that the parent may develop the disease.

• #6 Huntington’s disease: a clinical review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-40

  The diagnosis is based on the clinical symptoms and signs in a person with a parent with proven HD. […] It is often necessary to request old information in the form of medical records and autopsy reports. […] The combination with the family history is sufficient for diagnosis. […] No imaging, general blood tests or other diagnostic tools are helpful.

• #7 Huntington’s Disease | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/huntingtons-disease

  In general, doctors use a combination of tests and other information to see if a person has HD. These include medical history, neurological and lab tests, brain imaging, and genetic testing. […] Genetic testing can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. Genetic testing makes it possible to predict with a higher degree of certainty if someone will develop HD. The most effective and accurate method of testing for HD called the direct genetic test counts the number of CAG repeats in the HD gene, using DNA taken from a blood sample. The presence of 36 or more repeats supports a diagnosis of HD. A test result of 26 or fewer repeats rules out HD. Prenatal testing is an option for people who have a family history of HD and are concerned about passing the disease to a child.

• #8 Huntington’s disease: MedlinePlus GeneticsLock

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

  The HTT gene provides instructions for making a protein called huntingtin. […] The HTT variant that causes Huntington’s disease involves a DNA segment known as a CAG trinucleotide repeat. […] This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. […] Normally, the CAG segment is repeated 10 to 35 times within the gene. […] In people with Huntington’s disease, the CAG segment is repeated 36 to more than 120 times. […] People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington’s disease, while people with 40 or more repeats almost always develop the disorder. […] An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein.

• #9 Huntington disease genetic test

  https://www.rcpa.edu.au/Manuals/RCPA-Manual/Pathology-Tests/H/Huntington-disease-genetic-test

  Specimen: 5-10 mL blood in EDTA tube. […] Method: PCR and fragment analysis to detect triplet repeat expansion in the Huntingtin gene (HTT). […] Application: Used to detect the Huntington disease in symptomatic or asymptomatic people. […] Predictive tests in asymptomatic family members should only be arranged after consultation with a clinical genetics service. […] Prenatal diagnosis is available. […] The DNA test may also be used to assist in the differential diagnosis of a neurological problem which could mimick Huntington disease. […] Interpretation: In the normal population the triplet repeat region has 26 or less repeats whilst those with typical Huntington disease have 40 or more repeats. […] The identification of the characteristic expansion of the triplet repeat is diagnostic for the presence of the Huntington disease mutation. Those with very high repeat numbers e.g. 60 repeats typically have early onset of disease. […] Individuals with triplet repeats between 27 to 35 are not at risk of Huntington disease, but children may be at risk of expansion into the pathogenic range. Individuals with 36-39 repeats is at risk for Huntington disease but may not develop symptoms (reduced penetrance).

• #10 Huntington’s Disease Association – Genetic testing

  https://www.hda.org.uk/information-and-support/getting-help/genetic-testing/

  Genetic testing […] Huntingtons is a genetic disease and a DNA test can be carried out which will usually tell you whether or not you have the faulty gene that causes it. […] Although the test is available, this does not mean that you must or should have it. You need to consider very carefully whether the test is right for you. […] Testing is only available at Regional Genetics Clinics, which are located throughout England and Wales. You can ask your GP to arrange an appointment for you. […] If you decide to have the test done you may have two separate blood samples taken (to double check the results). Your affected parents blood may also be tested to check the original diagnosis of Huntingtons disease. The DNA which is extracted from the blood is then analysed in a specialised laboratory. […] According to national and international guidelines, follow-up counselling after you have been given the test result should be available. You can find out about this from your clinic. […] Every person has two CAG repeats, one from the mother and one from the father. If one of the CAG repeats is above 40, this is classed as a positive result (full penetrance) and the person will go on to develop Huntington’s disease. If both CAG repeats are under 26 then this is a negative result. […] For a small minority though, the results are not quite as simple because they receive a result in the grey area’. Reduced penetrance is in this grey area and this means that the person may or may not develop Huntington’s disease.

• #11

  https://publications.essex.ac.uk/esj/article/id/225/

  Huntington’s disorder is an incurable genetic neurodegenerative disorder that affects many people’s day-to-day lives, and in the United Kingdom alone, affects an estimated 8,000 people (Balogun et al., 2022). […] This analysis aims to present and explore the main topics – what is Huntington’s disorder? What are the symptoms? What causes it? How prevalent is it? How is it diagnosed and treated? […] HD is autosomal-dominant, meaning it is caused by a mutation in a non-sex chromosome gene that has a 50% chance of being passed on if one parent has the mutated gene. […] Because HD is monogenetic meaning it is caused by a single faulty gene diagnosis is relatively straightforward. The diagnostic test consists of a blood test that, when analysed, allows for the quantity of CAG repeats in each HTT allele to be determined (Myers, 2004). This means the test can determine the probability of developing HD in the future because a result of 40 implies a 100% risk, 36-39 implies a 60-70% risk, 27-35 implies a 0% personal risk – with risk to offspring acquiring the mHTT gene – and 26 implies a 0% risk (de Die-Smulders et al., 2013).

• #12 Huntington’s disease: MedlinePlus GeneticsLock

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

  This phenomenon is called anticipation. […] People with the adult-onset form of Huntington’s disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats. […] 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).

• #13 Review of Huntington’s Disease: From Basics to Advances in Diagnosis and Treatment | Gonzalez Rojas | Journal of Neurology Research

  https://www.neurores.org/index.php/neurores/article/view/721/701

  The aim was to summarize all these data and facilitate access to the information for both general neurologists and movement disorders specialists. […] The advent of the genetic testing allowed locating the origin of the disease in Western Europe (France, Germany and the Netherlands), with subsequent expansion towards America, England, South Africa and Australia. […] The range from 17 to 20 repeats is the most commonly found in unaffected individuals. […] The vast majority of adult-onset cases have 40 – 50 CAGs, whereas expansions of 50 and more are associated with juvenile onset (Westphal variant). […] Despite that, the extension of the CAG triplet accounts only for 70% of this variance. […] Motor age at onset is then partly predicted by the inherited number of CAG repeats along with other modifying genes and epigenetics.

• #14 Huntington’s treatment & management

  https://medically.roche.com/global/en/microsites/huntingtons-disease/diagnosis-and-symptom-management.html

  A clinical diagnosis of Huntington’s disease (HD) is usually made on the basis of family history and the presence of unequivocal motor symptoms. While HD typically progresses in a similar manner, each person with HD has a unique onset and severity of symptoms. Subtle changes in cognition, mood and behaviour appear years before diagnosis or onset of unequivocal motor signs and are called prodromal symptoms. A genetic test using DNA taken from a blood sample is the most effective and accurate method of diagnosing HD. […] Genetic testing for HD is typically carried out in one of three scenarios: Predictive testing: genetic testing performed in an asymptomatic individual at genetic risk for inheriting HD wishing to determine if they carry the HD-causing gene mutation. Confirmatory testing: genetic test performed in symptomatic individuals, with or without a family history of HD, to confirm an HD diagnosis. Prenatal testing: a genetic test that can assist in family planning. […] It is important for individuals with HD to be fully supported before, during and after their genetic testing journey. Involving a team of HD specialists, including genetic counsellors and social workers, will help individuals navigate these complex choices.

• #15 Huntington Disease | Choose the Right Test

  https://arupconsult.com/content/huntington-disease

  Huntington disease (HD) is typically diagnosed based on clinical symptoms, including the presence of chorea, and a family history of HD, and is confirmed by genetic testing. […] Although a diagnosis of HD is largely based on clinical symptoms, the gold standard for diagnosis is genetic testing. […] Diagnostic genetic testing is indicated for individuals with or without a family history of HD after the onset of motor symptoms, particularly those severe enough to receive a score of 4 on the Unified Huntingtons Disease Rating Scale (UHDRS). […] Predictive genetic testing may be indicated for asymptomatic individuals with a family history of the disease. […] Polymerase chain reaction (PCR) testing and size analysis for an expanded number of cytosine-adenine-guanine (CAG) trinucleotide repeats in the HTT gene may be performed for both symptomatic individuals and asymptomatic individuals with a family history of HD.

• #16 OBM Neurobiology | Prenatal and Preimplantation Genetic Diagnosis of Huntington’s Disease

  https://www.lidsen.com/journals/neurobiology/neurobiology-05-01-085

  Prenatal diagnosis of HD was first performed using polymorphic DNA probes linked to the HD locus. Using the amniotic fluid cells or chorionic villus material, the risk of developing HD by the fetus could be predicted with 96% accuracy. […] As it was discovered that HD mutation is a CAG expanded repeat, direct testing became available, and the expansion could be tested in the offspring of known HD gene carriers with high reliability. However, for optimal reliability, the DNA of both parents are studied for information with respect to the normal alleles of the HD gene before prenatal testing is offered. […] Soon after the discovery of the HD locus on chromosome 4, prenatal exclusion testing for offspring at risk was introduced. Exclusion testing avoids the transmission of the HD allele of the affected grandparent without disclosing the disease status of the parent at risk. Thus, a parent with a 50% risk of having HD could have children with a low risk of HD.

• #17 Huntington’s disease | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/brain-nerves-and-spinal-cord/huntingtons-disease/

  If theyve inherited the faulty gene, theyll develop Huntingtons disease, but its not possible to work out when. […] A doctor might use a brain scan if theyre concerned there may be other problems in addition to Huntingtons disease. […] A brain scan may involve having a computerised tomography (CT scan) or a magnetic resonance imaging (MRI) scan. […] If youre pregnant and know you have the Huntingtons disease gene, its possible for your unborn baby to be tested during pregnancy at 11 weeks. […] Preimplantation genetic diagnosis can be used when one partner is known to have or is at risk of having the faulty gene. […] It involves having in vitro fertilisation (IVF) treatment. The embryo is genetically tested to make sure it doesnt have the faulty gene before being implanted into the womb.

• #18 Huntington’s disease – Overview | Guy’s and St Thomas’ NHS Foundation Trust

  https://www.guysandstthomas.nhs.uk/our-services/huntingtons-disease

  A blood test can be used to identify Huntingtons disease in: […] Diagnosis might involve blood tests and a brain scan to make sure it isn’t another condition. The Huntington’s disease gene test can confirm the diagnosis. […] Diagnostic tests help diagnose people with symptoms […] Pre-symptomatic tests can discover if someone at risk will develop the condition in their lifetime. This is only offered to at-risk people over the age of 18 whove followed a predictive testing protocol. This involves genetic counselling sessions. […] Pre-natal tests can be used in pregnancy to see if the baby carries the change in the gene […] Pre-implantation genetic diagnosis can detect the gene change in the early embryo as part of IVF. Only unaffected embryos would be implanted.

• #19 Huntington Disease Mutation Analysis | Test Detail | Quest Diagnostics

  https://testdirectory.questdiagnostics.com/test/test-detail/10247/huntington-disease-mutation-analysis?p=r&cc=MASTER

  Huntington Disease Mutation Analysis – To confirm the clinical diagnosis of Huntington disease (HD) in affected individuals; to provide pre-symptomatic predictive diagnosis of HD in individuals with positive family history; to identify individuals at risk of having affected offspring. […] This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes. […] 5 mL whole blood collected in an EDTA (lavender-top) tube. […] A physician attestation of informed consent (PAIC) waiver is required and will meet the test specific waiver requirements. […] Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

• #20 Athena Diagnostics

  https://www.athenadiagnostics.com/view-full-catalog/huntington-disease-repeat-expansion-test1

  Test code: 116 Type of disorder: Movement Disorders Disease(s) tested for: Huntington’s Disease Genes Included: IT15 […] Clinical Significance: Detects CAG triplet repeat expansion in the IT15 gene Typical Presentation: Chorea and idiopathic behavior change (may not be present in children) […] Methodology: Repeat Expansion Detection by PCR, Long Read Sequencing Reference Range: Normal: 5 and 26 CAG trinucleotide repeats

• #21 Huntington’s Disease

  https://www.utmb.edu/neuro/clinical-enterprises/specialty-clinics/huntington’s-disease

  The direct gene test is now widely used for confirmation of clinical diagnosis in adult patients who have symptoms and signs compatible with HD. […] With the identification of the HD gene, there has been a major advance in predictive testing for HD. Direct testing for the CAG repeat length can not only identify individuals who will develop the disorder, but it also can identify those who have not inherited the mutant gene from a parent. […] Direct gene testing can be extremely helpful in determining the differential diagnosis for a patient with a movement disorder. […] We recommend genetic counseling for every subject who has DNA testing. Understanding the genetic issues of HD is beneficial to the subjects and their family members. […] The predictive DNA testing for HD requires at least three visits. One is scheduled a few weeks prior to the blood drawing. Psychological testing, genetic counseling, and a neurological examination will be obtained during the first visit. […] The direct gene test allows for highly accurate prenatal diagnosis. The sample must be obtained by an amniocenthesis or a chorionic villus biopsy, which are minor but invasive procedure routinely done at an outpatient clinic.

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

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

  Huntington’s disease testing is available at regional genetics clinics. […] The clinics follow an agreed genetic counselling procedure which is usually spread over at least three sessions to help the person decide whether or not to go ahead with the Huntington’s disease test. […] Two separate blood samples are taken to double-check the results. […] Although the test can tell whether the person is carrying the HD mutation, it cannot tell when the disease itself will start to develop. […] If genetic testing is considered then extensive genetic counselling in a specialised unit is required in view of the implications of an untreatable, familial, progressive, neurodegenerative disease.

• #23 Huntington’s disease – Wikipedia

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

  Testing before the onset of symptoms is a life-changing event and a very personal decision. […] The main reason given for choosing to test for HD is to aid in career and family decisions. […] Genetic counseling in HD can provide information, advice and support for initial decision-making, and then, if chosen, throughout all stages of the testing process.

• #23 Huntington’s disease – Wikipedia

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

  Diagnosis of the onset of HD can be made following the appearance of physical symptoms specific to the disease. […] Genetic testing can be used to confirm a physical diagnosis if no family history of HD exists. Even before the onset of symptoms, genetic testing can confirm if an individual or embryo carries an expanded copy of the trinucleotide repeat (CAG) in the HTT gene that causes the disease. […] A physical examination, sometimes combined with a psychological examination, can determine whether the onset of the disease has begun. […] If these are abrupt and have random timing and distribution, they suggest a diagnosis of HD. […] How far the disease has progressed can be measured using the unified Huntington’s disease rating scale, which provides an overall rating system based on motor, behavioral, cognitive, and functional assessments.

• #24 Huntington’s disease: diagnosis, treatment, and support | University of Iowa Health Care

  https://uihc.org/services/huntingtons-disease

  Our certified neurogenetic counselors have unique expertise in inherited neurological disorders like Huntingtons disease. We routinely coordinate genetic testing for patients and their first-degree relatives (parents, siblings, or children). […] You have chorea, and the neurologist feels that it may be caused by Huntingtons disease. […] You dont have features of Huntingtons, but you have a family history of the disease. […] Choosing whether to have a genetic test is a personal decision. […] If youre considering it, our genetic counselors will help you understand what type of information the test provides and how it might guide your treatment decisions.

• #25 Huntington disease | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/huntington-disease?lang=us

  Huntington disease typically has a prevalence of 2-10 per 100,000 and is typically diagnosed between 30 and 50 years of age. […] Although all modalities capable of structural brain imaging will demonstrate morphological changes of Huntington disease, MRI has the greatest spatial and contrast resolution and is thus preferred. […] The most striking and best-known feature is that of caudate head atrophy. […] PET demonstrates hypometabolism by decreased FDG uptake in basal ganglia and frontal cortex even before noticeable caudate nucleus volume loss. […] No disease-modifying treatment is generally available.

• #26 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Huntingtons-Disease-Diagnosis.aspx

  Functional neuroimaging techniques such as fMRI and PET (Positron emission tomography) can reveal changes in brain activity before physical symptoms start to develop. However, these tools have only been used experimentally rather than clinically so far. […] Genetic testing can be performed to check whether someone is at risk of Huntingtons disease. A blood sample is taken and checked for the mutation in the patients two copies of the Huntingtin (HTT) gene which codes for the huntingtin protein. The mutation that is checked for is an expansion mutation of the cytosine- adenine-guanine (CAG) triplet found in the HTT gene on chromosome 4. The mutated gene codes for a huntingtin protein that is abnormal and gradually damages brain cells. People born to parents with Huntingtons disease can undergo genetic testing for the condition after the age of 18. If the faulty gene is detected, they will develop the disease but the age at which this will happen cannot be determined.

• #27 Review of Huntington’s Disease: From Basics to Advances in Diagnosis and Treatment | Gonzalez Rojas | Journal of Neurology Research

  https://www.neurores.org/index.php/neurores/article/view/721/701

  Neuroimaging techniques include structural imaging and functional and metabolic imaging measures. […] These bio-imaging techniques are better at monitoring early stages of disease progression and could even be used to measure treatment response. […] Current available treatments are purely symptomatic and focus on improving motor and non-motor symptoms. […] Many clinical trials have been working on the search for symptomatic and disease-modifying therapies. […] The latest consensus about treatment options was performed by the European Huntingtons Disease Network (EHDN) and published in 2019.

• #28 Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington’s disease decades before clinical motor diagnosis | Nature Medicine

  https://www.nature.com/articles/s41591-024-03424-6

  Longitudinal increase in somatic CAG repeat expansion ratio (SER) in blood was a significant predictor of subsequent caudate (FDR=0.072) and putamen (FDR=0.148) atrophy. […] We provide evidence in living humans that the influence of CAG length on HD neuropathology is mediated by somatic CAG repeat expansion. […] The first phase 1/2 trial of an antisense oligonucleotide (ASO), tominersen, showed dose-dependent lowering of mutant huntingtin levels. […] A key question in using such therapies will be determining the optimal timing for treatment. […] The appearance of HD motor signs is already accompanied by substantial striatal neurodegeneration, and earlier treatment seems likely to produce greater clinical benefit. […] The greatest opportunity to influence disease progression lies in early treatment, with the goal of delaying or preventing clinical motor diagnosis.

• #29 Huntington Disease – Neurologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/neurologic-disorders/movement-and-cerebellar-disorders/huntington-disease

  Huntington disease is an autosomal dominant disorder characterized by chorea, neuropsychiatric symptoms, and progressive cognitive deterioration, usually beginning during middle age. Diagnosis is by genetic testing. First-degree relatives should be offered genetic counseling before genetic tests are done. […] Diagnosis of Huntington disease is based on typical symptoms and signs plus a positive family history. It is confirmed by genetic testing that measures the number of CAG repeats. […] Neuroimaging helps identify caudate atrophy and often some frontal-predominant cortical atrophy.

• #30 Huntington’s Disease: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14369-huntingtons-disease

  How is Huntingtons disease diagnosed? A healthcare provider, like a neurologist (a doctor specializing in the brain and nerves), will diagnose Huntingtons disease after performing a physical exam and a neurological exam. Theyll look for symptoms of the condition that affect your movements, like twitches and jerking, as well as problems with your balance, reflexes and coordination. Your neurologist will also want to know if anyone else in your biological family has the condition. Often, youll need a genetic test to confirm the diagnosis. […] Tests can rule out other conditions that cause similar symptoms and confirm a Huntingtons disease diagnosis. Tests include: […] A genetic test is a blood test that looks for changes to your DNA. Your healthcare provider draws a sample of your blood and sends it to a lab to look at your DNA. The test determines if you have a genetic change in the HTT gene. A genetic counselor (someone who specializes in genetic testing) will discuss the process and results with you. […] Yes. If one of your parents or siblings has Huntingtons disease, your risk of having it is high. Predictive genetic testing testing for genetic conditions before symptoms start can tell if you have the gene change that causes Huntingtons disease.

• #31 Huntington’s disease | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/brain-nerves-and-spinal-cord/huntingtons-disease/

  If you have symptoms of Huntingtons disease, your GP will refer you to a specialist clinician. […] The specialist will ask about your symptoms to: see if its likely you have Huntingtons disease, rule out similar conditions. […] Theyll examine you and test your thinking, eye movements, balance and walking. Theyll find out if you have any involuntary movements, such as chorea (fidgety or jerky movements). […] You might have genetic testing to confirm if you have Huntingtons disease if: youre showing symptoms of the condition and it runs in your family, your doctor strongly suspects you have the condition. […] Diagnosis is based on the doctor recognising a number of factors like neurological examination, family history and genetic testing. […] The children of someone with Huntingtons disease can take a genetic test after the age of 18 to see whether theyve inherited the faulty gene.

• #32 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Huntingtons-Disease-Diagnosis.aspx

  A diagnosis of Huntingtons disease is suspected based on the appearance of specific symptoms. In most cases, these symptoms appear around middle age, when a person is between 35 and 45 years of age. […] A detailed physical examination is performed to assess whether disease onset has started. The physician will test for signs of involuntary body movements. Unintentional, random and abrupt movements will often lead to a diagnosis of Huntingtons being suspected. […] A detailed psychological examination is also performed to check for signs of decline in motor, behavioral and cognitive function. […] Medical imaging techniques, such as computerized tomography (CT) and magnetic resonance imaging (MRI) can reveal atrophy of the caudate nuclei, which is observed in the early stages of Huntingtons disease. However, this feature in itself is not diagnostic of the condition.

• #33 Review of Huntington’s Disease: From Basics to Advances in Diagnosis and Treatment | Gonzalez Rojas | Journal of Neurology Research

  https://www.neurores.org/index.php/neurores/article/view/721/701

  The disease is usually characterized by hyperkinetic movements that become hypokinetic in a later phase. […] The Unified Huntington Disease Rating Scale (UHDRS) is the most commonly used. […] The motor subset item in the UDHRS can be useful to assess clinical onset of HD. […] In 2010, HD Clinical Research Group at the University of California proposed a set of criteria to diagnose dementia in HD. […] Their results suggest that a diagnosis of HD dementia should include demonstrable evidence of impairment in at least two areas of cognition (e.g., attention, speed of processing, executive functions, visuospatial abilities, and memory), without necessarily having memory impairment expressed. […] The new genetic technologies contribute to the growing number of HD-like disorders. […] Clinical biomarkers are standardized and protocolized clinical tests and rating scales that serve to assess the progression of motor, cognitive and psychiatric aspects of HD.

• #34 Huntington Disease: The Complexities of Making and Disclosing a Clinical Diagnosis After Premanifest Genetic Testing | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.394

  The management of patients and families affected by Huntington disease (HD) is complicated by several factors, both practical and ethical. It can be difficult to determine the onset of clinically manifest HD (mHD). […] In HD and many other disorders, a genetic diagnosis in an unaffected, premanifest person is possible with genetic testing, years before it is possible to make a diagnosis of clinically manifest HD (mHD). […] The current formal diagnosis of mHD is based only on motor diagnostic criteria that are part of the Unified Huntington Disease Rating Scale (UHDRS). For a diagnosis of mHD, the clinician rates 4 on the 0 to 4 UHDRS Diagnostic Confidence Limits (DCL) scale. […] The principal sources of this information are pivotal longitudinal studies (Predict HD and TRACK HD) comparing the natural history of premanifest expansion carriers with noncarriers.

• #35 Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington’s disease decades before clinical motor diagnosis | Nature Medicine

  https://www.nature.com/articles/s41591-024-03424-6

  The recent introduction of the HD Integrated Staging System (HD-ISS) provides a new empirical framework for classifying people with HD throughout life, with stage 0 being the HDGE group with striatal volumes within the general population range, stage 1 being the presence of a biomarker of pathogenesis (caudate and/or putamen volume change), stage 2 being the presence of motor and/or cognitive signs and stage 3 being marked by the onset of functional impairment. […] Our cross-sectional baseline data demonstrated subtle elevations in biofluid biomarkers, such as cerebrospinal fluid (CSF) neurofilament light (NfL), accompanied by slightly smaller putamen volumes in the HDGE group compared to unaffected controls. […] Here we present 4.5-year follow-up data from HD-YAS, a deep-phenotyped longitudinal study of young stages 0 and 1 HDGE adults, ~19 years before clinical motor diagnosis.

• #36 Huntington’s Disease | Conditions | UCSF Health

  https://www.ucsfhealth.org/conditions/huntingtons-disease

  To make a diagnosis of Huntington’s disease (HD), a genetic test, using a blood sample, will be performed. This test is usually combined with a complete medical history and other neurological and laboratory tests. For individuals who are at risk of carrying the HD gene, testing can be performed before symptoms occur. […] Information from brain scans such as computed tomography (CT), electroencephalography (EEG) and magnetic resonance imaging (MRI) may be reviewed as part of the diagnosis.

• #37 Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington’s disease decades before clinical motor diagnosis | Nature Medicine

  https://www.nature.com/articles/s41591-024-03424-6

  Huntingtons disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. […] In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.5 years compared with 46 controls (false discovery rate (FDR)0.3). […] However, cerebrospinal fluid (CSF) markers showed very early signs of neurodegeneration in HDGE with elevated neurofilament light (NfL) protein, an indicator of neuroaxonal damage (FDR=3.21012), and reduced proenkephalin (PENK), a surrogate marker for the state of striatal medium spiny neurons (FDR=2.6103), accompanied by brain atrophy, predominantly in the caudate (FDR=5.51010) and putamen (FDR=1.2109).

• #38 About Huntington’s Disease

  https://www.genome.gov/Genetic-Disorders/Huntingtons-Disease

  The discovery of the HD gene led to a genetic test to make or confirm the diagnosis of Huntington’s disease. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of CAG repeats in the huntingtin gene. Individuals who do not have HD usually have 28 or fewer repeats. Individuals with HD usually have 40 or more repeats. […] Deciding to be tested for Huntington’s disease can be difficult. Individuals consider genetic testing to confirm a diagnosis when clear symptoms are present and there is a documented family history of HD. Others who have a parent with the disease elect to be tested to resolve uncertainty about their future. A negative test relieves anxiety and uncertainty. A positive test enables individuals to make decisions about careers, marriage and families.

• #39 Huntington’s Disease: Causes, Symptoms, Treatment

  https://www.webmd.com/brain/hungtingtons-disease-causes-symptoms-treatment

  Diagnosing Huntingtons Disease […] Early diagnosis will help maintain your quality of life for longer. It may also make you eligible to participate in the many clinical trials. The way to get the earliest diagnosis is to get genetic testing to see if you have the HD gene. […] If you see a provider about symptoms you are noticing, they will ask questions about your medical background, give you a physical exam, and likely suggest genetic testing. You will also receive neurological tests to check your: Reflexes, Muscle strength, Balance, Sense of touch, Vision, Hearing, Mood and mental status, Memory, Reasoning, Thinking skills. […] Huntingtons Disease and Genetic Testing […] Only about 10% of patients with a family history of Huntingtons Disease choose to get genetic testing. There can be lots of reasons why, including fears of insurance or employment discrimination. That is why Sung recommends meeting with a genetic counselor skilled in Huntingtons disease who can address your concerns and make the best choice for you. […] In fact, early genetic testing can be helpful in many ways, including: Participation in clinical trials. Research for a cure and disease-modifying therapies is picking up, says Sung. All of them are looking for patients whose symptoms are super mild, or they dont have any symptoms yet. When symptoms are what prompt people to see a provider, they have usually passed the early stage, says Sung. […] Better symptom management. All the symptoms are easier to treat when they are milder, says Sung. Very often when we meet patients for the first time, they are very, very symptomatic, and it takes a while to get it under control. It is a lot easier to maintain control. […] Improved quality of life for longer. If we intervene earlier, you can keep working longer, says Sung. Its not in anyones best interest to go on disability at age 45. The same goes for any daily activity that requires cognitive or motor skills.

• #40 Huntington’s Disease | Baylor Medicine

  https://www.bcm.edu/healthcare/specialties/neurology/parkinsons-disease-and-movement-disorders/huntingtons-disease

  Before the advent of a genetic blood test, the diagnosis of HD was based upon the typical clinical presentation and a positive family history of HD, supported by the findings of atrophy (shrinkage) of the caudate nucleus on brain imaging. […] Today, DNA testing can reliably diagnose HD and differentiate the disease from other disorders that cause similar symptoms. […] DNA testing is also available for family members of patients with HD who may not have symptoms but are at risk for the disease. […] However, because of potential psychological and legal implications of identifying a HD gene mutation in an asymptomatic, at-risk individual, predictive testing should be performed by a team of clinicians and geneticists who are knowledgeable about the disease and genetic techniques and who are sensitive to the psychosocial and ethical issues associated with such testing.

• #41 Huntington’s Disease Youth Organization – Dealing with a Diagnosis

  https://www.hdyo.org/a/568-dealing-with-a-diagnosis

  Note: To clarify, when we say diagnosed with HD we mean having symptoms. We are not referring to testing positive or negative. If you are looking for content on that topic we suggest visiting the genetic testing section. […] It can be helpful for people to know it is okay to feel all of these emotions. […] Many people who go through gene testing and/or receiving a diagnosis of having symptoms of HD benefit greatly by reaching out to talk to family, friends, and healthcare providers. […] It is not uncommon for healthcare professionals to make medication changes. When people who are diagnosed with symptoms of HD bring in support people to give feedback to the healthcare providers it gives the healthcare team a really good picture of what the person with HD is like at home. This can be very helpful in treating the symptoms of HD and ensures everyone is on the same page!

• #42 OBM Neurobiology | Prenatal and Preimplantation Genetic Diagnosis of Huntington’s Disease

  https://www.lidsen.com/journals/neurobiology/neurobiology-05-01-085

  Not only exclusion testing but PND of HD has been ethically problematic for numerous reasons. The first is a selective abortion of fetuses carrying an HD mutation because they might expect about 30 years of disease-free life. Furthermore, if parents decide not to terminate the pregnancy in case of an abnormal test result, this could be problematic for the child, who does not want to know that he/she is carrying the mutation and therefore will develop HD. […] Several options are available for prenatal diagnosis. At approximately 11 to 12 weeks gestation, the fetal DNA from the placental material could be obtained by a chorionic villus biopsy. From 16 weeks onward, fetal DNA could be obtained by amniocentesis. Although the latter procedure involves less risk, both procedures are invasive, with a significant risk of miscarriage. Non-invasive testing involves fewer risks for the fetus. In this case, the circulating fetal DNA in the maternal blood could be examined considerably earlier in pregnancy. However, the use of non-invasive prenatal diagnosis (NIPD) for HD is limited to at-risk pregnancies from an affected father. Furthermore, the strong fragmentation and the short sizes of circulating DNA fragments do not allow the direct detection of these mutations. An alternative approach is to perform analysis on circulating fetal trophoblastic cells (CFTCs) isolated from the maternal blood.

• #43 About Huntington’s Disease

  https://www.genome.gov/Genetic-Disorders/Huntingtons-Disease

  Some who are at risk choose not to take the test. They choose to live with the uncertainty of being at risk and to forgo the emotional consequences of a positive result, as well as possible losses of insurance and employment. Genetic counselors can help individuals make the difficult decisions about testing. […] Prospective parents consider prenatal testing when one parent has been diagnosed with Huntington’s disease or has been found to carry the gene. Prenatal testing can show whether the child will inherit the defective gene. To test the fetus, DNA is extracted from fetal cells via CVS (chorionic villi sampling) or amniocentesis. If the fetus tests positive, parents can make decisions about whether to terminate the pregnancy.

• #44 Huntington Disease: The Complexities of Making and Disclosing a Clinical Diagnosis After Premanifest Genetic Testing | Tremor and Other Hyperkinetic Movements

  https://tremorjournal.org/articles/10.5334/tohm.394

  Because of these and other studies, it is apparent that some features might define clinical disease onset much earlier than the current definition of motor onset. […] It may be possible to use other factors to define onset, and these could be relevant in clinical trials or in initiating a proven, protective, or curative intervention in the future. […] The determination of when to disclose the diagnosis of HD to an individual is a matter of clinical judgement. […] Once a diagnosis is made and disclosed, discrimination may be more likely, especially when the individual seeks insurance. […] Many factors must be considered when making and disclosing a diagnosis of mHD, but this is especially true when a genetic diagnosis precedes the clinical diagnosis of mHD.

• #45 Study reveals racial disparities in Huntington’s disease diagnoses | UCLA Health

  https://www.uclahealth.org/news/release/study-reveals-racial-disparities-huntingtons-disease

  New research led by UCLA Health revealed that Black patients with Huntington’s disease in the U.S. and Canada received their diagnoses, on average, one year later compared to White patients after symptoms first appear. […] Dr. Adys Mendizabal, lead author of the study and UCLA Health assistant professor of neurology, said early diagnosis is essential for allowing patients to access appropriate care and prepare for the significant life changes resulting from the neurodegenerative disease. […] The findings rely on the multicenter ENROLL-HD research platform. […] UCLA Health used the data to investigate whether the time it takes to diagnose Huntington’s disease after symptoms first appear is influenced by factors such as race, socioeconomic status, initial symptoms, and family history awareness.

• #46 Study reveals racial disparities in Huntington’s disease diagnoses | UCLA Health

  https://www.uclahealth.org/news/release/study-reveals-racial-disparities-huntingtons-disease

  Of the 4,717 patients included in this study, nearly 90% were White and only 2.3% were Black. Mendizabal said that given the barriers to healthcare access in the U.S., she suspects the true delays in diagnosis are likely underestimated in this study. […] To address limitations in the ENROLL-HD data, Mendizabal said further clinical data is needed to better understand barriers to healthcare access.

• #47 My public journey since my diagnosis of Huntington’s diseasecaret iconEnvelope icon

  https://huntingtonsdiseasenews.com/columns/public-journey-since-diagnosis-huntingtons-disease/

  My name is Tanita Allen, and in 2012, I received life-changing news: I was diagnosed with Huntington’s disease (HD), a rare, neurodegenerative condition. […] After years of unexplained symptoms, I was finally diagnosed at 37 years old. […] Rare diseases, including HD, are often underdiagnosed in minority communities because of medical biases and a lack of awareness. […] It’s not enough for me to live my life quietly with this condition. […] I want to make noise, to educate, to challenge outdated thinking, and to push for better care and resources for people of color with rare diseases, including mine. […] If there’s one thing I hope people take away from my story, it’s this truth: Rare diseases don’t discriminate. They can affect people of every race, ethnicity, and background. […] By sharing our stories, we can help break down the barriers that exist in healthcare, create more inclusive communities, and ensure that no one faces a diagnosis alone. […] Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment.

• #48 Huntington’s Disease

  https://www.uvmhealth.org/medcenter/conditions-and-treatments/huntingtons-disease

  Huntington’s disease is a rare condition that breaks down (degeneration) nerve cells in the brain. […] At The UVM Medical Center, we use a team of highly skilled experts to diagnose treat neurological conditions. […] Huntington’s disease symptoms can be caused by a number of different conditions. It’s important to get a prompt, thorough diagnosis in order to guide your personalized treatment plan effectively. Neurologists and neuroradiologists at The UVM Medical Center are specially trained in advanced diagnostic methods and technology, including: […] Huntington’s Disease Genetic Test.

• #49 Diagnosis of Huntington’s Disease

  https://www.verywellhealth.com/huntington-s-disease-diagnosis-5089748

  You can have a genetic test to determine whether you carry the gene that causes Huntingtons disease. You would also have a clinical diagnosis when you develop symptoms. […] The definitive test for Huntingtons disease is a genetic test that examines your DNA. This is done with a blood sample. This test can identify the presence of the genetic mutation (alteration) that causes Huntingtons disease. […] If you have the gene mutation, you will develop the disease. And if you dont have the gene mutation, you will not develop the disease. This test is considered highly accurate, with high sensitivity and specificity, and it is not associated with false positive or false negative results. […] The diagnosis of Huntingtons disease involves a risk assessment, which is based on your family history and genetic testing. Confirmation that the condition has started to have its effects is based on your symptom history and your neurological and cognitive examination.

• #50 What is Huntington’s Disease? | UC Health | Symptoms & Causes

  https://www.uchealth.com/en/conditions/huntingtons-disease

  Huntington disease is a genetic disorder. It is passed on from parents to children. If a parent has Huntington’s disease, the child has a 1 in 2 chance of getting it. […] Many of these symptoms can be caused by other diseases, so your healthcare provider will do a detailed physical and nervous system exam. A family history of the disorder is often the biggest clue that you may have Huntington’s disease. […] Special genetic blood tests can help your healthcare provider find out how likely you are to get Huntington’s disease. Genetic testing is only done in the setting of a comprehensive evaluation, with genetic counseling and a neurologic assessment. A CT scan of the head can help your provider assess the scope and scale of brain cell damage and loss of brain tissue. An MRI or a positron emission tomography (PET) scan may also be used.

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