Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) type 10 (SPG10) is an autosomal-dominantly inherited disease caused by pathogenic variants in KIF5A , presenting as either pure or complex HSP. OBJECTIVES: This study aims to investigate the clinical and genetic features of KIF5A variants in a Taiwanese cohort diagnosed with HSP. MATERIALS AND METHODS: We analyzed KIF5A coding regions in 219 unrelated Taiwanese...

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