A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia

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 cerebe...

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Detalles Bibliográficos
Autores principales: Koh, Kishin, Shimazaki, Haruo, Ogawa, Matsuo, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325744/
https://www.ncbi.nlm.nih.gov/pubmed/35882834
http://dx.doi.org/10.1038/s41439-022-00204-x
Descripción
Sumario: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.

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