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To obtain novel candidate genes for autosomal dominant spinocerebellar ataxia and other neurodegenerative disorders in which gene mutations remain unidentified, we screened a human fetal brain cDNA library using (CAG)(10) repeat probes. Sixteen cDNAs were isolated and mapped to chromosomes 1, 2, 3, 6, 9, 13, 15, 16, 22, and X. Although we failed to detect abnormal CAG repeat expansion within these genes in Japanese patients with inherited neurodegenerative diseases, these genes remain potential candidate genes for neurodegenerative diseases that feature anticipation.

journal of human genetics

Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and other neurodegenerative diseases