Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

doi:10.1093/brain/aws240

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Article

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Brain : a journal of neurology - 1 Oct 2012

Klebe Stephan, Depienne Christel, Gerber Sylvie, Challe Georges, Anheim Mathieu, Charles Perrine, Fedirko Estelle, Lejeune Elodie, Cottineau Julien, Brusco Alfredo, Dollfus Hélène, Chinnery Patrick F, Mancini Cecilia, Ferrer Xavier, Sole Guilhem, Destée Alain, Mayer Jean-Michel, Fontaine Bertrand, de Seze Jérôme, Clanet Michel, Ollagnon Elisabeth, Busson Philippe, Cazeneuve Cécile, Stevanin Giovanni, Kaplan Josseline, Rozet Jean-Michel, Brice Alexis, Durr Alexandra

Abstract excerpt

Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ligation-dependent probe amplification (n = 7); previously reported ambiguous SPG7 cases (n = 5); patients carefully selected...

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Identifiers

PMID: 23065789
DOI: 10.1093/brain/aws240
PMCID: PMC3470714

Genes

SPG7

Provenance

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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