Article
Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia.
Journal of the neurological sciences - 15 Dec 2014
Cintra Vívian Pedigone, Lourenço Charles Marques, Marques Sandra Elisabete, de Oliveira Luana Michelli, Tumas Vitor, Marques Wilson
Abstract excerpt
Autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically heterogeneous group of debilitating neurodegenerative diseases that are related to at least 36 different genetic loci; they are clinically characterized by progressive cerebellar ataxia and are frequently accompanied by other neurological and non-neurological manifestations. The relative frequency of SCA varies greatly among...
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