Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain

M. Arias,P. Mir,M. Fernández-Matarrubia, J. Arpa, R. García-Ramos, P. Blanco-Arias, B. Quintans,M.J. Sobrido

Neurología (English Edition)（2022）

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摘要

ARCA1/SCAR8 can be found worldwide and may be caused by many distinct mutations in the SYNE1 gene. The disease may manifest with a complex phenotype of varying severity.

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关键词

Ataxia,Autosomal recessive inheritance,SYNE1,ARCA1,SCAR8,Sequencing,Gene panel

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