Aug 2026
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.
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.
Hiromi Fukuda, Hiroshi Doi, Shunsuke Ogata et al.
· Journal of Human Genetics · 0 citations