Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
نویسندگان
چکیده
منابع مشابه
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
Objective—Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia (ADCA) of which the mutation causing the disease has recently been characterised as an expanded CAG trinucleotide repeat in the gene coding for the á1A-subunit of the voltage dependent calcium channel. The aim was to further characterise the SCA6 phenotype Methods—The SCA6 mutation was investigated in 69 G...
متن کاملSpinocerebellar ataxia type 2. Genotype and phenotype in German kindreds.
BACKGROUND Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia (ADCA) for which the disease-causing mutation has recently been characterized as an expanded CAG trinucleotide repeat. We investigated 64 families of German ancestry with ADCA and 55 patients with sporadic ataxia for the SCA2 mutation. RESULTS Expanded alleles were found in 6 of the 64 families and in 1...
متن کاملDe novo expansion of intermediate alleles in spinocerebellar ataxia 7.
Spinocerebellar ataxia 7 (SCA7) is the eighth neurodegenerative disorder caused by a translated CAG repeat expansion. Normal SCA7 alleles carry from four to 35 CAG repeats, whereas pathological alleles carry from 37 to approximately 200. Intermediate alleles (IAs), with 28-35 repeats in the SCA7 gene are exceedingly rare in the general population and are not associated with the SCA7 phenotype, ...
متن کاملPhenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias.
The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very e...
متن کاملSpinocerebellar ataxia: relationship between phenotype and genotype - a review.
Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2002
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200788