Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and other neurodegenerative diseases
نویسندگان
چکیده
منابع مشابه
Autosomal 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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Autosomal dominant cerebellar ataxias, frequently referred to as spinocerebellar ataxias (SCAs) have been under intense scientific research limelight since expansions of coded CAG trinucleotide repeats were demonstrated to cause several dominantly inherited SCAs. The number of new SCA loci has expanded dramatically in recent years. At least ten genes have been identified for SCAs 1, 2, 3, 6, 7,...
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The involvement of genes with expanded tracts of (CAG)n in some neurodegenerative diseases is well established. Whether genes containing these motifs could also have a role in degenerative diseases affecting the retina, which is also neural in origin, is unknown. We investigated (CAG)n expansions as a cause of disease in a panel of eight autosomal dominant retinitis pigmentosa (ADRP) pedigrees,...
متن کاملMultimodal neurophysiological study of SCA2 and SCA3 autosomal dominant hereditary spinocerebellar ataxias.
BACKGROUND The spinocerebellar ataxias (SCA) are a group of genetic neurodegenerative diseases, clinically and pathologically heterogeneous, characterized by slowly progressive cerebellar ataxia. OBJECTIVE To identify the neural pathways affected neurophysiologically, correlate the findings with the size of CAG expansion and determine the contribution of neurophysiological studies in the diff...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2002
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s100380200039