A novel KIDINS220 mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy

ObjectivesMutations in KIDINS220 are known to cause hereditary spastic paraplegia (HSP) and SINO syndrome. However, the phenotypic and genotypic spectrum of KIDINS220-related disorders remains incompletely understood. Herein, we describe the clinical, electrophysiological, histopathological, and gen...

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Auteurs principaux:	Xujun Chu, Jin Xu, Yilei Zheng, Xiaoyu Liu, Yun Yuan, Rui Wu
Format:	Artigo
Langue:	Inglês
Publié:	Frontiers Media S.A. 2025-10-01
Collection:	Frontiers in Neuroscience
Sujets:	KIDINS220 hereditary spastic paraplegia peripheral neuropathy nerve biopsy genotype–phenotype correlation
Accès en ligne:	https://www.frontiersin.org/articles/10.3389/fnins.2025.1684980/full
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