Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
نویسندگان
چکیده
منابع مشابه
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
We report upon a Dutch autosomal dominant cerebellar ataxia (ADCA) family, clinically characterized by a late-onset (>40 years), slowly progressive, isolated spinocerebellar ataxia (SCA). Neuropathological examination in one affected subject showed neuronal loss in the Purkinje cell layer, dentate nuclei and inferior olives, thinning of cerebellopontine tracts, demyelination of posterior and la...
متن کاملPredictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia.
Presymptomatic (PT) and prenatal testing (PNT) for Huntington’s disease (HD) have been available since 1986. Testing was initially based on genetic markers linked to the disease locus on chromosome 4p. Since 1993 and the identification of the huntingtin gene, direct analysis provides accurate PT and PNT. Recent advances in the field of molecular genetics has provided suitable tools for direct t...
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 کاملAutosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics
Autosomal Dominant Cerebellar Ataxia (ADCA) Type III is a type of spinocerebellar ataxia (SCA) classically characterized by pure cerebellar ataxia and occasionally by non-cerebellar signs such as pyramidal signs, ophthalmoplegia, and tremor. The onset of symptoms typically occurs in adulthood; however, a minority of patients develop clinical features in adolescence. The incidence of ADCA Type I...
متن کاملGenetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar degeneration caused by the expansion of a CAG trinucleotide repeat in the CACNA1A gene. Mutations in patients are characterised by expanded alleles of between 21 and 30 repeat units and by extreme gonadal stability when transmitted from parents to children. We have investigated the SCA6 mutation in a large Spanish kindred ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2007
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-007-0154-1