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Article

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.

Neurology - 24 Aug 2004

Chinnery P F, Keers S M, Holden M J, Ramesh V, Dalton A

Abstract excerpt

The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates the importance of complete screening of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15326248
DOI: 10.1212/01.wnl.0000135346.63675.3e

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15326248-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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