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Article

A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.

BMC neurology - 9 Nov 2021

Nan Haitian, Shiraku Hiroshi, Mizuno Tomoko, Takiyama Yoshihisa

Abstract excerpt

BACKGROUND: Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP), and is rarely associated with a complicated form that includes ataxia, epilepsy, and cognitive decline. To date, the genotype-phenotype correlation has not been substantially established for SPAST mutations. CASE PRESENTATION: We present a...

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Identifiers

PMID: 34753439
DOI: 10.1186/s12883-021-02478-0
PMCID: PMC8576993

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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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