Spinocerebellar Ataxia Type 6 (SCA6) Phenotype in a Patient with an Intermediate Mutation Range CACNA1A Allele
نویسنده
چکیده
Spinocerebellar ataxia type 6 (SCA6) is one of multiple autosomal dominant progressive ataxias due to unstable trinucleotide repeat gene sequences. Overall prevalence of SCA6 is estimated to be 5:100,000 [1]. Carrier rates of the full-penetrance allele vary by geographic location, presumably due to founder effect, with the highest frequency observed in Japan (about 30%) followed by the United States and Germany; much of the literature describing affected individuals originates from Japan [2].
منابع مشابه
Bicistronic CACNA1A Gene Expression in Neurons Derived from Spinocerebellar Ataxia Type 6 Patient-Induced Pluripotent Stem Cells
Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant neurodegenerative disorder that is caused by a CAG trinucleotide repeat expansion in the CACNA1A gene. As one of the few bicistronic genes discovered in the human genome, CACNA1A encodes not only the α1A subunit of the P/Q type voltage-gated Ca2+ channel CaV2.1 but also the α1ACT protein, a 75 kDa transcription factor sharing the seq...
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 ...
متن کاملEpisodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
Point mutations of the CACNA1A gene coding for the alpha 1A voltage-dependent calcium channel subunit are responsible for familial hemiplegic migraine (FHM) and episodic ataxia type 2 (EA2). In addition, expansions of the CAG repeat motif at the 3' end of the gene, smaller than those responsible for dynamic mutation disorders, were found in patients with a progressive spinocerebellar ataxia, na...
متن کاملPhenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.
BACKGROUND Different mutations in the alpha 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in pati...
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CACNA1A mutations cause a range of disorders with diverse, sometimes overlapping clinical features. Point mutations, including missense mutations, nonsense mutations, splicing mutations and small deletions/insertions, result in a variety of phenotypes including episodic ataxia type 2 (EA2) and familial hemiplegic migraine type 1 (FHM1). These 2 conditions show clinical overlap with spinocerebel...
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تاریخ انتشار 2013