REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

doi:10.1002/humu.21542

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Article

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Human mutation - 1 Oct 2011

Goizet Cyril, Depienne Christel, Benard Giovanni, Boukhris Amir, Mundwiller Emeline, Solé Guilhem, Coupry Isabelle, Pilliod Julie, Martin-Négrier Marie-Laure, Fedirko Estelle, Forlani Sylvie, Cazeneuve Cécile, Hannequin Didier, Charles Perrine, Feki Imed, Pinel Jean-François, Ouvrard-Hernandez Anne-Marie, Lyonnet Stanislas, Ollagnon-Roman Elisabeth, Yaouanq Jacqueline, Toutain Annick, Dussert Christelle, Fontaine Bertrand, Leguern Eric, Lacombe Didier, Durr Alexandra, Rossignol Rodrigue, Brice Alexis, Stevanin Giovanni

Abstract excerpt

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP...

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PMID: 21618648
DOI: 10.1002/humu.21542

Genes

REEP1

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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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