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Article

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.

Human molecular genetics - 1 Jan 2003

Charvin Delphine, Cifuentes-Diaz Carmen, Fonknechten Nuria, Joshi Vandana, Hazan Jamilé, Melki Judith, Betuing Sandrine

Abstract excerpt

Mutations of spastin are responsible for the most common autosomal dominant form of hereditary spastic paraplegia (AD-HSP), a disease characterized by axonal degeneration of corticospinal tracts and posterior columns. Generation of polyclonal antibodies specific to spastin has revealed two isoforms of 75 and 80 kDa in both human and mouse tissues with a tissue-specific variability of the isoform ratio. Spastin is...

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PMID: 12490534
DOI: 10.1093/hmg/ddg004

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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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Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.PMID 12490534Read ↗

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