Article
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Annals of neurology - 1 Nov 2005
Klebe Stephan, Durr Alexandra, Rentschler Alexander, Hahn-Barma Valerie, Abele Michael, Bouslam Naima, Schöls Ludger, Jedynak Pierre, Forlani Sylvie, Denis Elodie, Dussert Christel, Agid Yves, Bauer Peter, Globas Christoph, Wüllner Ullrich, Brice Alexis, Riess Olaf, Stevanin Giovanni
Abstract excerpt
Autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurological disorders. Point mutations in the gene encoding protein kinase Cgamma (PRKCG) are responsible for spinocerebellar ataxia 14 (SCA14). We screened for mutations in the PRKCG gene, in a large series of 284 ADCA index cases, mostly French (n=204) and German (n=48), in whom CAG repeat expansions in the known SCA genes were...
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