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Article

Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

European journal of human genetics : EJHG - 1 Oct 2000

Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A

Abstract excerpt

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterised by progressive spasticity of the lower limbs. The SPG4 locus at 2p21-p22 accounts for 40-50% of all AD-HSP families. The SPG4 gene was recently identified. It is ubiquitously expressed in adult and foetal tissues and encodes spastin, an ATPase of the AAA family. We have now identified...

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PMID: 11039577
DOI: 10.1038/sj.ejhg.5200528

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Hereditary spastic paraplegia caused by mutations in the SPG4 gene.PMID 11039577Read ↗

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