Article
Homozygosity enhances severity in spinocerebellar ataxia type 3.
Pediatric neurology - 1 Apr 2008
Carvalho Daniel R, La Rocque-Ferreira Alessandra, Rizzo Isabela M, Imamura Erica U, Speck-Martins Carlos E
Abstract excerpt
Spinocerebellar ataxia type 3, or Machado-Joseph disease, is an autosomal dominant neurodegenerative disease characterized by a wide spectrum of clinical findings that include progressive cerebellar ataxia. All affected individuals have an expanded CAG repeat mutation in one allele of the ATXN3 gene. An inverse relationship exists between the age of onset and the number of repeats in the abnormal expanded allele....
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