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

被引：1

作者：

Aida, Izumi ^{[1
]}

Ozawa, Tetsuo ^{[2
,3
]}

Ohta, Kentaro ^{[1
,3
]}

Fujinaka, Hidehiko ^{[3
,4
,5
]}

Goto, Kiyoe ^{[3
]}

Nakajima, Takashi ^{[1
]}

机构：

[1] Natl Hosp Org Niigata Natl Hosp, Dept Neurol, Niigata, Japan

[2] Natl Hosp Org Niigata Natl Hosp, Dept Internal Med, Niigata, Japan

[3] Natl Hosp Org Niigata Natl Hosp, Dept Genet Counseling, Niigata, Japan

[4] Natl Hosp Org Niigata Natl Hosp, Dept Pediat, Niigata, Japan

[5] Na t Hosp Org Niigata Natl Hosp, Dept Clin Res, Niigata, Japan

来源：

INTERNAL MEDICINE | 2021年 / 61卷 / 16期

关键词：

SCAR10; TMEM16K; ANO10; spasticity; cerebellar ataxia; CEREBELLAR-ATAXIA; ANO10; MUTATIONS; REVEALS;

D O I：

10.2169/internalmedicine.8608-21

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 har-boring 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.

引用

页码：2517 / 2521

页数：5

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