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- Izumi Aida, Tetsuo Ozawa, Kentaro Ohta, Hidehiko Fujinaka, Kiyoe Goto, and Takashi Nakajima.
- Department of Neurology, National Hospital Organization Niigata National Hospital, Japan.
- Intern. Med. 2022 Aug 15; 61 (16): 2517-2521.
AbstractAutosomal 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 contrast, only three cases have been identified in Asian countries. We herein report the third Japanese case of SCAR10 harboring a novel homozygous deletion mutation (c.616delG, p.Glu206Lysfs*17). This case presented with adult-onset slowly progressive spastic ataxia with cerebellar atrophy and mild cognitive decline.
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