Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation
نویسندگان
چکیده
منابع مشابه
Spinocerebellar ataxia type 6.
We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...
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Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the pontomedullar systems, pyramidal tracts, basal ganglia, cerebral cortex, peripheral nerves (ADCA I) and the retin...
متن کاملExome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
To the Editor : Spinocerebellar ataxia autosomal recessive type 10 (SCAR10, OMIM 613728) is caused by the mutation of ANO10 (1). The clinical phenotype was characterized by ataxia, hyper-reflexia, normal plantar reflex, downbeat nystagmus and lower motor neuron involvement. Here, we report a novel ANO10 mutation in a patient with autosomal recessive spinocerebellar ataxia (ARSCA), using exome s...
متن کاملSpinocerebellar Ataxia Type 6 (SCA6) Phenotype in a Patient with an Intermediate Mutation Range CACNA1A Allele
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 S...
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ژورنال
عنوان ژورنال: The Cerebellum
سال: 2018
ISSN: 1473-4222,1473-4230
DOI: 10.1007/s12311-018-0978-6