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Article

Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.

Journal of human genetics - 1 Jan 2007

Amino Takeshi, Ishikawa Kinya, Toru Shuta, Ishiguro Taro, Sato Nozomu, Tsunemi Taiji, Murata Miho, Kobayashi Kazuhiro, Inazawa Johji, Toda Tatsushi, Mizusawa Hidehiro

Abstract excerpt

The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was strongly associated with the disease. However, recently, an exceptional patient without the...

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PMID: 17611710
DOI: 10.1007/s10038-007-0154-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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