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Article

[Molecular genetic approach to spinocerebellar ataxias].

Rinsho shinkeigaku = Clinical neurology - 1 Nov 2009

Ishikawa Kinya, Ishiguro Taro, Takahashi Makoto, Sato Nozomu, Amino Takeshi, Niimi Yusuke, Mizusawa Hidehiro

Abstract excerpt

Spinocerebellar ataxia (SCA) is a group of degenerative ataxias with autosomal dominant inheritance. The most common form of mutation that causes SCA is the expansion of trinucleotide (CAG) repeat encoding polyglutamine. These "polyglutamine disorders" are, SCA1, SCA2, Machado-Joseph disease, SCA6, SCA7, SCA17 and DRPLA. Another dynamic mutation, yet a non-coding one, has been identified as the cause of SCA8,...

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PMID: 20030245
DOI: 10.5692/clinicalneurol.49.907

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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