Article
Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.
Internal medicine (Tokyo, Japan) - 15 Aug 2022
Aida Izumi, Ozawa Tetsuo, Ohta Kentaro, Fujinaka Hidehiko, Goto Kiyoe, Nakajima Takashi
Abstract excerpt
Autosomal recessive spinocerebellar ataxia of type 10 (SCAR10) is a very rare neurodegenerative disease caused by mutations in the TMEM16K (ANO10) gene. This disorder is characterized by slowly progressive cerebellar ataxia and pyramidal signs inconstantly associated with cognitive decline, polyneuropathy, epilepsy, and vesicorectal dysfunction. To date, more than 40 cases have been reported in Europe. In...
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