Huntington's disease (HD) is associated with expansion of a CAG repeat in a novel gene. We have assessed 21 sporadic cases of HD to investigate sequential events underlying HD. We show the existence of an intermediate allele (IA) in parental alleles of 30-38 CAG repeats in the HD gene ...
cognitive and psychiatric impairment1,2,3,4,5,6. Although the disease-causing mutation is present in all brain cells, the severity of the disease varies across brain regions7,8. New evidence
Huntington’s disease (HD) is one of the most frequently found neurodegenerative disorders. Its main clinical manifestations arc chorea, cognitive impairment and psychiatric disorders. It is an autosomal-dominant disorder with almost complete penetrance. The mutation responsible for HD, unstable expansion...
Huntington's disease: a lifelong disease process Huntington's disease (HD) is a dominantly inherited disorder in which all affected individuals have precisely the same type of mutation, the expansion of a normally polymorphic CAG trinucleotide repeat in the HD gene, which lengthens a variable ...
Gellera, C, Meoni, C, Castellotti, B., et al. (1996) Errors in Huntington Disease diagnostic test caused by trinucleotide deletion in the IT15 gene. Curtis, A. R., Fey, C., Morris, C. M., et al. (2001) Mutation in the gene encoding ferritin light polypeptide causes dominant adul...
mutation has provided novel opportunities to determine the chronological order of events underlying the selective neuronal death seen in the disease, which have hitherto been impossible to determine in humans. © 2001 Academic Press. View chapter...
Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding of the fatal...
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Juvenile Huntington disease (HD), characterised by onset of symptoms before the age of 20 with rigidity and intellectual decline, is associated with a pred... H Te...
Huntington disease mutation carriers who have yet to develop clinical symptoms are most concerned with internal and relational issues (social, emotional, and self concerns) that are associated with the disease. These concerns remain throughout and do not increase in the subsequent stages of HD. Pati...
Huntington's disease is a hereditary neurodegenerative disorder caused by an autosomal dominant mutation. The hallmark symptom of Huntington's disease is the presence of progressive chorea (abnormal involuntary movements), which is accompanied by psychiatric symptoms and cognitive decline. ...