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

Annals of clinical and translational neurology - 1 Mar 2023

Fang Shih-Yu, Chou Ying-Tsen, Hsu Kuo-Chou, Hsu Shao-Lun, Yu Kai-Wei, Tsai Yu-Shuen, Liao Yi-Chu, Tsai Pei-Chien, Lee Yi-Chung

Abstract excerpt

OBJECTIVE: 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. METHODS: We screened 242 unrelated Taiwanese patients with HSP for NIPA1 mutations. The clinical features of patients with a NIPA1 mutation were analyzed. Minigene-based...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36607129
DOI: 10.1002/acn3.51724
PMCID: PMC10014004

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