Article
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Brain : a journal of neurology - 1 Apr 2008
Beetz Christian, Schüle Rebecca, Deconinck Tine, Tran-Viet Khanh-Nhat, Zhu Hui, Kremer Berry P H, Frints Suzanna G M, van Zelst-Stams Wendy A G, Byrne Paula, Otto Susanne, Nygren Anders O H, Baets Jonathan, Smets Katrien, Ceulemans Berten, Dan Bernard, Nagan Narasimhan, Kassubek Jan, Klimpe Sven, Klopstock Thomas, Stolze Henning, Smeets Hubert J M, Schrander-Stumpel Constance T R M, Hutchinson Michael, van de Warrenburg Bart P, Braastad Corey, Deufel Thomas, Pericak-Vance Margaret, Schöls Ludger, de Jonghe Peter, Züchner Stephan
Abstract excerpt
Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing...
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