Clinical and genetic epidemiological study of 16q22.1-linked autosomal dominant cerebellar ataxia in western Japan
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چکیده
منابع مشابه
Autosomal dominant pure cerebellar ataxia. A clinical and genetic analysis of eight Japanese families.
We carried out linkage analysis and clinical assessment on 41 patients with autosomal dominant pure cerebellar ataxia (ADCA) type III from eight Japanese families. The presenting symptom was gait ataxia in all patients, with the average age of onset at 46.0 +/- 9.0 (SD) years. The mean age of onset was 3.2 +/- 7.7 years earlier in offsprings than in their parents, suggesting mild, but not drama...
متن کاملPrevalence of autosomal dominant cerebellar ataxia in Aomori, the northernmost prefecture of Honshu, Japan.
OBJECTIVE The frequency of autosomal dominant cerebellar ataxia (ADCA) varies between different regions of Japan. This is the first report on the prevalence of ADCA subtypes in Aomori, Japan. METHODS AND PATIENTS Sixty-five familial spinocerebellar ataxia (SCA) patients and 15 sporadic SCA patients were genetically examined. For only the SCA2 patients (n = 8), the magnetic resonance imaging (...
متن کاملThe role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.
The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutation. The identification of the SCA2 mutation in 31 out of 38 fami...
متن کاملMolecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).
Spinocerebellar ataxia 7 (SCA7) is caused by the expansion of an unstable CAG repeat in the first exon of the SCA7 gene. We have analyzed the SCA7 mutation in 19 families and one isolated case of various geographical origins, presenting with autosomal dominant cerebellar ataxia with progressive macular dystrophy. The SCA7 CAG repeat was expanded in 77 patients and in 11 at-risk individuals, wit...
متن کاملGenetic heterogeneity of autosomal dominant nonprogressive congenital ataxia.
We studied a family with nonprogressive congenital ataxia (NPCA) previously reported in 1985. Follow-up evaluation documented a nonprogressive course. Older family members developed ataxic spells and vertical oscillopsia triggered by stress and exercise. Linkage analysis using a 10K single-nucleotide polymorphism array found suggestive linkage to four loci on chromosomes 1q44, 5q35.1-35.3, 7q36...
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ژورنال
عنوان ژورنال: Acta Neurologica Scandinavica
سال: 2007
ISSN: 0001-6314,1600-0404
DOI: 10.1111/j.1600-0404.2007.00815.x