Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

doi:10.1038/ng1980

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Article

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

Nature genetics - 1 Mar 2007

Stevanin Giovanni, Santorelli Filippo M, Azzedine Hamid, Coutinho Paula, Chomilier Jacques, Denora Paola S, Martin Elodie, Ouvrard-Hernandez Anne-Marie, Tessa Alessandra, Bouslam Naïma, Lossos Alexander, Charles Perrine, Loureiro José L, Elleuch Nizar, Confavreux Christian, Cruz Vítor T, Ruberg Merle, Leguern Eric, Grid Djamel, Tazir Meriem, Fontaine Bertrand, Filla Alessandro, Bertini Enrico, Durr Alexandra, Brice Alexis

Abstract excerpt

Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous...

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PMID: 17322883
DOI: 10.1038/ng1980

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SPG11

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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.PMID 17322883Read ↗

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