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Article

Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 2010

Svenstrup Kirsten, Giraud Geneviève, Boespflug-Tanguy Odile, Danielsen Else R, Thomsen Carsten, Rasmussen Kirsten, Law Ian, Vogel Asmus, Stokholm Jette, Crone Clarissa, Hjermind Lena E, Nielsen Jørgen E

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic P...

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Source

Identifiers

PMID: 19955111
DOI: 10.1136/jnnp.2009.180315

Genes

PLP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19955111-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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