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Article

Reversing Autophagy Inhibition Ameliorates Neurodegeneration in Hereditary Spastic Paraplegia Caused by a Degradation-Resistant SPAST Mutation.

Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2026

Zhang Dingyi, Hu Yang, Guo Jianhe, Wu Dongmei, Zhang Yifan, Yang Lingzi, Wang Yuxi, Xiao Nong, Fan Jinhua, Dong Yanling, Zhong Min, Liu Tongfei

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSPs) are monogenic neurodegenerative disorders, and SPAST mutations causing spastic paraplegia type 4 (SPG4) represent the most common form of HSP. SPAST mutations elevate SPASTIN protein levels beyond haploinsufficiency, but the mechanisms and downstream consequences are unclear. METHODS: We identified a de novo SPAST missense variant (p.I344E) in a young Chinese...

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Share to Autophagy
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Spastic Paraplegia, Hereditary

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Source

Identifiers

PMID: 41403389
DOI: 10.1002/mds.70150

Genes

SPAST
SQSTM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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