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Article

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Neurogenetics - 1 Sept 2004

Svenson Ingrid K, Kloos Mark T, Gaskell P Craig, Nance Martha A, Garbern James Y, Hisanaga Shin-ichi, Pericak-Vance Margaret A, Ashley-Koch Allison E, Marchuk Douglas A

Abstract excerpt

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease characterized by wide variability in phenotypic expression, both within and among families. The most-common cause of autosomal dominant HSP is mutation of the gene encoding spastin, a protein of uncertain function. We report the existence of intragenic polymorphisms of spastin that modify the HSP phenotype. One (S44L) is...

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PMID: 15248095
DOI: 10.1007/s10048-004-0186-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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