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Article

[Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2022

Rudenskaya G E, Shestopalova E A, Kadnikova V A, Shchagina O A

Abstract excerpt

A case of spastic paraplegia type 4 (SPG4) due to SPAST p.Arg499His mutation de novo in a child, aged 2 years 8 months, is presented. The differences of this first Russian case with the mutation and of a number of reported cases from typical SPG4 are very early onset, severe disabling spasticity and additional signs, cognitive disturbances in particular; SPAST mutations de novo are also infrequent. Specific...

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Identifiers

PMID: 35394730
DOI: 10.17116/jnevro2022122031117

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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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