A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

Kishin Koh; Haruo Shimazaki; Matsuo Ogawa; Yoshihisa Takiyama

doi:10.1038/s41439-022-00204-x

A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

Hum Genome Var. 2022 Jul 27;9(1):27. doi: 10.1038/s41439-022-00204-x.

Authors

Kishin Koh¹, Haruo Shimazaki², Matsuo Ogawa³, Yoshihisa Takiyama⁴

Affiliations

¹ Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan.
² Faculty of Health & Medical Care, Saitama Medical University, Saitama, 350-1241, Japan.
³ Mooka Chuo Clinic, Tochigi, 321-4337, Japan.
⁴ Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan. ytakiyama@yamanashi.ac.jp.

Abstract

A heterozygous mutation in GRID2 that causes SCAR18 was first reported in an Algerian family with autosomal dominant cerebellar ataxia (ADCA). We identified the second ADCA family with a heterozygous GRID2 mutation. The Algerian family had cognitive impairment and hearing loss associated with cerebellar ataxia. However, the Japanese family presented here showed pure cerebellar ataxia. Therefore, we should also screen for the GRID2 mutation in ADCA families with pure cerebellar ataxia.

Abstract

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