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Article

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.

Annals of neurology - 1 Dec 2003

McDermott Christopher J, Grierson Andrew J, Wood Jonathan D, Bingley Megan, Wharton Stephen B, Bushby Katharine M D, Shaw Pamela J

Abstract excerpt

The commonest cause of hereditary spastic paraplegia (HSP) is mutation in the spastin gene. Both the normal function of spastin in the central nervous system and the mechanism by which mutation in spastin causes axonal degeneration are unknown. One hypothesis is that mutant spastin disrupts microtubule dynamics, causing an impairment of organelle transport on the microtubule network, which leads to degeneration...

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Identifiers

PMID: 14681884
DOI: 10.1002/ana.10757

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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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Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation.PMID 14681884Read ↗

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.Semantic proximity Read ↗

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Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.Semantic proximity Read ↗

The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.Semantic proximity Read ↗

The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubules.Semantic proximity Read ↗

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Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance.Semantic proximity Read ↗

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