Intrafamilial phenotypic variation in spinocerebellar ataxia type 23
نویسندگان
چکیده
منابع مشابه
Spinocerebellar Ataxia Type 7 Sans Retinal Degeneration: A Phenotypic Variability
Autosomal dominant cerebellar ataxia (ADCA) was classified into Type I, Type II, and Type III, based on the clinical phenotypes by Harding. ADCA Type I presents with both cerebellar and noncerebellar signs and includes SCA1–SCA4, SCA8, SCA10, SCA12-SCA23, SCA25, SCA27, SCA28, and SCA32–SCA36. ADCA Type II consists of syndromes in association with pigmentary retinopathies and includes SCA7. ADCA...
متن کاملSpinocerebellar 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...
متن کامل5 Spinocerebellar Ataxia Type 2
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 کاملEffect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.
Trinucleotide repeat expansion has been found in 64 subjects from 19 families: 57 patients with SCA1 and 7 subjects predicted, by haplotype analysis, to carry the mutation. Comparison with a large set of normal chromosomes shows two distinct distributions, with a much wider variation among expanded chromosomes. The sex of transmitting parent plays a major role in the size distribution of expand...
متن کاملCognitive impairment in spinocerebellar ataxia type 8.
OBJECTIVES Only a limited number of studies have investigated the cognitive performances of spinocerebellar ataxia (SCA) patients. In none of the SCA8 studies have the neuropsychological test performances been the primary measures. The objective of the current study was to investigate the characteristics of cognitive deficits in SCA8. METHODS Ten SCA8 patients and ten case-by-case matched con...
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ژورنال
عنوان ژورنال: Cerebellum & Ataxias
سال: 2020
ISSN: 2053-8871
DOI: 10.1186/s40673-020-00117-x