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Novel In‐Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A : Clinical Response to Deep Brain Stimulation and 4‐Aminopyridine

29 Mar 2025

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia 27A (SCA27A) is a rare neurodegenerative disorder characterized by childhood-onset tremor and progressive cerebellar dysfunction. SCA27A is usually caused by loss-of-function FGF14 variants. OBJECTIVES: We report the identification of a novel FGF14 variant in a five-generation family with autosomal dominant ataxia and describe the clinical phenotype and response to subthalamic...

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PMID: 40156335
DOI: 10.1002/mds.30183

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