Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

doi:10.1016/j.ajhg.2013.12.005

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Article

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.

American journal of human genetics - 6 Feb 2014

Esteves Typhaine, Durr Alexandra, Mundwiller Emeline, Loureiro José L, Boutry Maxime, Gonzalez Michael A, Gauthier Julie, El-Hachimi Khalid H, Depienne Christel, Muriel Marie-Paule, Acosta Lebrigio Rafael F, Gaussen Marion, Noreau Anne, Speziani Fiorella, Dionne-Laporte Alexandre, Deleuze Jean-François, Dion Patrick, Coutinho Paula, Rouleau Guy A, Zuchner Stephan, Brice Alexis, Stevanin Giovanni, Darios Frédéric

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome mapping and exome sequencing, we identified three mutations in REEP2 in two families with HSP: a missense variant (c.107T>A...

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Identifiers

PMID: 24388663
DOI: 10.1016/j.ajhg.2013.12.005
PMCID: PMC3928657

Genes

REEP2

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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