Article
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
Brain : a journal of neurology - 1 May 2012
García-Murias María, Quintáns Beatriz, Arias Manuel, Seixas Ana I, Cacheiro Pilar, Tarrío Rosa, Pardo Julio, Millán María J, Arias-Rivas Susana, Blanco-Arias Patricia, Dapena Dolores, Moreira Ramón, Rodríguez-Trelles Francisco, Sequeiros Jorge, Carracedo Angel, Silveira Isabel, Sobrido María J
Abstract excerpt
Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a GGCCTG repeat expansion in intron 1 of NOP56. Family interview and document research allowed us to reconstruct two extensive, multigenerational kindreds stemming from the same village (Costa da Morte in Galicia, Spain), in the 17th century. We found the...
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