Clinical and genetic features of Huntington's disease
- VernacularTitle:Huntington病的临床和遗传特征
- Author:
Guoxiu KE
;
Chunfeng LIU
;
Fang LIN
- Publication Type:Journal Article
- Keywords:
Huntington's disease;
clinical feature;
IT15 gene;
trinucleotide repeats
- From:
Journal of Clinical Neurology
1992;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical and genetic features of Huntington's disease (HD). Methods The data of clinical information and heredity in 28 patients with HD from 6 Chinese families were analyzed retrospectively. Results There were 28 patients in 6 pedigrees, including 15 males and 13 females. The onset age of all patients was 26～72 years old and the course of disease was variable from 6 years to more than 20 years, and there were 6 gene carriers, including 2 males and 4 females. These patients mainly appeared progressively chorea movement, with mental abnormalities (3 cases), dementia (1 case),ataxia (3 cases), dysarthria and dysphay in late stag (10 cases). Brain MRS of one gene carrier demonstrated significant Lac inversion hump in bilateral lenticular nucleus. Six pedigrees showed autosomal dominant inheritance. HD patients and gene carriers had an abnormal expansion of CAG (n≥37). Moreover, in 4 pedigrees, the onset age was earlier in the subsequent generations. Conclusions HD is an autosomal dominant neurodegenerative disorder with genetic anticipation and diversified clinical presentations. The (CAG)n expansion at the IT15 gene is the disease-causing mutation in the six pedigrees.
