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[A case of spastic paraplegia with SPG4 and SPG3 associated mutations].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2023

Rudenskaya G E, Kuchina A S, Kadnikova V A, Ryzhkova O P

Abstract excerpt

A rare case of autosomal dominant spastic paraplegia in a 36-year-old female with two reported earlier mutations of most common spastic paraplegia forms: SPG4 (mutation p.Cys28Leufs*20 in SPAST gene) and SPG3 (mutation p.Val405Met in ATL1 gene) is presented. The mutations detected by massively parallel sequencing (MPS) panel were inherited from affected mother and clinically unaffected father, respectively. The...

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Identifiers

PMID: 37315258
DOI: 10.17116/jnevro2023123051171

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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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