IllnessMorbus Huntington
Summary
Curated analysis of the CAG trinucleotide repeat block in exon 1 of the HTT gene
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
X
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
HTT | 9429 | NM_002111.8 | AD |
Informations about the disease
Huntington disease (HD) is a progressive neurodegenerative disorder that causes uncontrolled movements, psychiatric problems and in some cases also loss of cognition. Usually HD sets in middle adulthood. Many patients develop involuntary, jerky and twitching movements and also personality changes. They usually live about 15 to 20 years after the onset of symptoms. Far rarer forms may begin in adolescence or even childhood with fairly nonspecific neuropsychiatric changes such as rigidity, epilepsy and slurred speech among other signs. The differential diagnosis is very broad and includes acquired as well as hereditary causes and ranges from benign familial chorea to neurodegenerative disorders. HD phenocopy syndromes include neurodegenerative diseases (dentatorubral pallidoluary atrophy, Huntington-like syndrome 2, spinocerebellar ataxia type 17, familial prion disease and others). Mutations of the C9orf72 gene appear to be the most common cause of HD phenocopy syndromes and also cause familial frontotemporal dementia and familial amyotrophic lateral sclerosis. Huntington-like disease 2 is rare and has been identified mostly in patients of African descent. Predictive DNA-diagnostics are carried out on the basis of the recommendations of the International Huntington's Disease Association and the World Federation of Neurology. Taking advantage of this test requires e.g. special reflection periods, 3/4 of people at risk ultimately decide against it [right not to know]. The differential-diagnostic DNA yield, by its very nature, depends critically on the preceding clinical case workup. A negative molecular genetic result represents only the exclusion of the abovementioned clinical molecular genetically defined entities.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1305/
- Alias [obsolet]: Erblicher Veitstanz
- Alias [obsolete]: "Chorea" Huntington
- Alias: Huntingtin [HTT, IT15, HD] gene
- Allelic: Lopes-Maciel-Rodan syndrome, AR [extremely rare, 4 cases] (HTT)
- Huntington disease, HD (HTT)
- AD
Bioinformatics and clinical interpretation
No text defined