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Article

A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.

Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2022

Chen Rui, Du Shiyue, Yao Yanyi, Zhang Lu, Luo Junyu, Shen Yinhua, Xu Zhenping, Zeng Xiaomei, Zhang Luoying, Liu Mugen, Yin Chuang, Tang Beisha, Tan Jun, Xu Xuan, Liu Jing Yu

Abstract excerpt

BACKGROUND: Haploinsufficiency is widely accepted as the pathogenic mechanism of spastic paraplegia type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST. OBJECTIVES: To identify the causative gene of autosomal dominant hereditary spastic paraplegia in three large Chinese families and explore the pathological mechanism of a spastin...

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Source

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Identifiers

PMID: 34927746
DOI: 10.1002/mds.28885
PMCID: PMC9300132

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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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