Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals
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چکیده
منابع مشابه
Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals.
The diagnosis and incidence of spinocerebelar ataxias (SCA) is sometimes difficult to analyze due the overlap of phenotypes subtypes and are disorders of mutations caused by CAG trinucleotide repeat expansion. To investigate the incidence of the SCA in Southern Brazil, we analyzed the trinucleotide repeats (CAG)n at the SCA1, SCA2, SCA3, SCA6 and SCA7 loci to identify allele size ranges and fre...
متن کاملSpinocerebellar ataxias.
UNLABELLED Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. OBJECTIVE To carry out a clinical and genetic...
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The aim of this study was to investigate the association between drug exposure and disease severity in SCA types 1, 2, 3 and 6. The Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) enrolled 319 participants with SCA1, 2, 3, and 6 from 12 medical centers in the United States and repeatedly measured clinical severity by the Scale for Assessment and Rating of Ataxia (SARA), the U...
متن کاملDepression and clinical progression in spinocerebellar ataxias.
BACKGROUND Depression is a common comorbidity in spinocerebellar ataxias (SCAs) but its association with ataxia progression is not well understood. OBJECTIVES To study the prevalence and influence of depressive symptoms in SCAs. METHODS We studied 300 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) and repeatedly measured depre...
متن کاملAutosomal dominant spinocerebellar ataxias
Key-words Disease name and synonyms Diagnostic criteria / Definition Classification Prevalence Clinical description Differential diagnosis Management Diagnostic methods Genetic counselling Outlook References
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2009
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2009000600034