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Article

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Journal of human genetics - 1 Jan 2006

Ohata Takako, Yoshida Kunihiro, Sakai Haruya, Hamanoue Haruka, Mizuguchi Takeshi, Shimizu Yusaku, Okano Tomomi, Takada Fumio, Ishikawa Kinya, Mizusawa Hidehiro, Yoshiura Ko-Ichiro, Fukushima Yoshimitsu, Ikeda Shu-Ichi, Matsumoto Naomichi

Abstract excerpt

The molecular bases of autosomal dominant cerebellar ataxia (ADCA) have been increasingly elucidated, but 17-50% of ADCA families still remain genetically undefined in Japan. In this study we investigated 67 genetically undefined ADCA families from the Nagano prefecture, and found that 63 patient...

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Identifiers

PMID: 16614795
DOI: 10.1007/s10038-006-0385-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16614795-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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