Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan

• Published in: Internal Medicine Vol. 61; no. 16; pp. 2517 - 2521
• Main Authors: Aida, Izumi, Ozawa, Tetsuo, Ohta, Kentaro, Fujinaka, Hidehiko, Goto, Kiyoe, Nakajima, Takashi
• Format: Journal Article
• Language: English
• Published: Japan The Japanese Society of Internal Medicine 15-08-2022; Japan Science and Technology Agency
• Subjects: ANO10; Atrophy; Case Report; Cerebellar ataxia; Cerebellum; Cognitive ability; Epilepsy; Gene deletion; Internal medicine; Mutation; Neurodegenerative diseases; Polyneuropathy; SCAR10; spasticity; TMEM16K; SCAR10; ANO10; cerebellar ataxia; spasticity; TMEM16K
• ISSN: 0918-2918; 1349-7235
• DOI: 10.2169/internalmedicine.8608-21

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 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.