Abstract:ObjectiveHereditary spastic paraplegias (HSPs) are a group of inherited neurodegenerative disorders characterized by slowly progressive lower limb spasticity and weakness. HSP type 54 (SPG54) is autosomal recessively inherited and caused by mutations in the DDHD2 gene. This study investigated the clinical characteristics and molecular features of DDHD2 mutations in a cohort of Taiwanese patients with HSP.MethodsMutational analysis of DDHD2 was performed for 242 unrelated Taiwanese patients with HSP. The clinic… Show more
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