Article
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Brain : a journal of neurology - 1 Jun 2009
Goizet Cyril, Boukhris Amir, Durr Alexandra, Beetz Christian, Truchetto Jeremy, Tesson Christelle, Tsaousidou Maria, Forlani Sylvie, Guyant-Maréchal Lucie, Fontaine Bertrand, Guimarães João, Isidor Bertrand, Chazouillères Olivier, Wendum Dominique, Grid Djamel, Chevy Françoise, Chinnery Patrick F, Coutinho Paula, Azulay Jean-Philippe, Feki Imed, Mochel Fanny, Wolf Claude, Mhiri Chokri, Crosby Andrew, Brice Alexis, Stevanin Giovanni
Abstract excerpt
Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified. Autosomal recessive forms of spastic paraplegias usually have clinically complex phenotypes but the SPG5, SPG24 and SPG28 loci are considered to be associated with 'pure' forms of the disease. Very recently, five mutations in the CYP7B1 gene, encoding a cytochrome P450 oxysterol 7-alpha...
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