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Article

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan

2 Nov 2023

Abstract excerpt

BACKGROUND AND OBJECTIVES: The GAA repeat expansion within the fibroblast growth factor 14 (FGF14) gene has been found to be associated with late-onset cerebellar ataxia. This study aimed to investigate the genetic causes of cerebellar ataxia in patients in Japan. METHODS: We collected a case series of 940 index patients who presented with chronic cerebellar ataxia and remained genetically undiagnosed after our...

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PMID: 37916889
DOI: 10.1002/acn3.51936

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