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Article

Clinical and genetic characterizations of 16q-linked autosomal dominant spinocerebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population.

Movement disorders : official journal of the Movement Disorder Society - 30 Apr 2007

Nozaki Hiroaki, Ikeuchi Takeshi, Kawakami Akio, Kimura Akio, Koide Reiji, Tsuchiya Miyuki, Nakmura Yuusaku, Mutoh Tatsuro, Yamamoto Hiroko, Nakao Naoki, Sahashi Ko, Nishizawa Masatoyo, Onodera Osamu

Abstract excerpt

Autosomal dominant spinocerebellar ataxias (AD-SCAs) form a clinically and genetically heterogeneous group of neurodegenerative disorders. Recently, a single nucleotide substitution in the 5'-untranslated region of the puratrophin-1 gene was found to be associated with one type of AD-SCA linked to chromosome 16q (16q-SCA). To obtain further insight into the contribution of the C-to-T substitution in the...

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PMID: 17357132
DOI: 10.1002/mds.21443

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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