[Recent progress of research on hereditary spinocerebellar degeneration].
Hereditary spinocerebellar degeneration consist of a cluster of heterogenous disorders. Based on clinical features, neuropathological findings and inheritance mode, these disorders have been classified into several entities. In the Japanese, olivo-ponto-cerebellar atrophy (OPCA), Machado-Joseph disease (MJD) and dominant cortical cerebellar atrophy (CCA) are the most popular forms of ataxia. Recent linkage analyses have revealed the locations of these genes; OPCA maps either on 6p23 (SCA1) or on 12q23 (SCA2), and MJD on 14q. The chromosomal assignment of these genes has resulted in development of a new classification of ataxia and has opened a new era of ataxia research.
Wakisaka
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A
Department of Pathology, Hokkaido University School of Medicine.
Sasaki
H
H
D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D010375:Pedigree; D012091:Repetitive Sequences, Nucleic Acid; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000235:genetics*