Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

Hiromi Fukuda Hiroshi Doi Shunsuke Ogata E. Koshimizu K. Hamanaka S. Miyatake Yuichi Higashiyama Yosuke Kudo Rumiko Kato T. Nukui Kazuki Yamada S. Shirai Ichiro Yabe Naomichi Matsumoto Fumiaki Tanaka

Aug 2026 · Journal of Human Genetics · 0 citations · 17 references

Medicine

TL;DR

The relatively high p.Arg207* allele frequency in East Asians and the 0.97% prevalence in the undiagnosed ataxia cohort support SCAR32 as an important cause of early-onset autosomal recessive cerebellar ataxia in Japan.

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