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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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
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author Koh, Kishin
Shimazaki, Haruo
Ogawa, Matsuo
Takiyama, Yoshihisa
author_facet Koh, Kishin
Shimazaki, Haruo
Ogawa, Matsuo
Takiyama, Yoshihisa
author_sort Koh, Kishin
collection PubMed
description 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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spelling pubmed-93257442022-07-28 A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia Koh, Kishin Shimazaki, Haruo Ogawa, Matsuo Takiyama, Yoshihisa Hum Genome Var Data Report 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. Nature Publishing Group UK 2022-07-27 /pmc/articles/PMC9325744/ /pubmed/35882834 http://dx.doi.org/10.1038/s41439-022-00204-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Koh, Kishin
Shimazaki, Haruo
Ogawa, Matsuo
Takiyama, Yoshihisa
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
title A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
title_full A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
title_fullStr A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
title_full_unstemmed A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
title_short A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
title_sort heterozygous grid2 mutation in autosomal dominant cerebellar ataxia
topic Data Report
url 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
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