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Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia.

Parkinsonism & related disorders - 1 Oct 2022

Hsu Shao-Lun, Liao Yi-Chu, Lin Kon-Ping, Lin Po-Yu, Yu Kai-Wei, Tsai Yu-Shuen, Guo Yuh-Cherng, Lee Yi-Chung

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and weakness. HSP type 30 (SPG30) is a HSP subtype caused by mutations in the kinesin family member 1A gene (KIF1A) and could be either autosomal dominantly or recessively inherited. The aim of this study was to investigate the clinical and...

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Identifiers

PMID: 36155026
DOI: 10.1016/j.parkreldis.2022.09.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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