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Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia

NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). The aim of this study was to investigate the clinical and… Click to show full abstract

NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). The aim of this study was to investigate the clinical and genetic features of SPG6 in a Taiwanese HSP cohort.

Keywords: spastic paraplegia; paraplegia; hereditary spastic; genetic characterization; clinical genetic; nipa1 mutations

Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2023

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