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Article

Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.

Neurogenetics - 1 Oct 2023

Zhu Zeyu, Hou Wenzhe, Cao Yuwen, Zheng Haoran, Tian Wotu, Cao Li

Abstract excerpt

Spastic paraplegia type 76 (SPG76) is a subtype of hereditary spastic paraplegia (HSP) caused by calpain-1 (CAPN1) mutations. Our study described the phenotypic and genetic characteristics of three families with spastic ataxia due to various CAPN1 mutations and further explored the pathogenesis of the two novel mutations. The three patients were 48, 39, and 48 years old, respectively. Patients 1 and 3 were from...

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PMID: 37468791
DOI: 10.1007/s10048-023-00726-8

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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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