Article
Haplotype Study in SCA10 Families Provides Further Evidence for a Common Ancestral Origin of the Mutation.
Neuromolecular medicine - 1 Dec 2017
Bampi Giovana B, Bisso-Machado Rafael, Hünemeier Tábita, Gheno Tailise C, Furtado Gabriel V, Veliz-Otani Diego, Cornejo-Olivas Mario, Mazzeti Pillar, Bortolini Maria Cátira, Jardim Laura B, Saraiva-Pereira Maria Luiza
Abstract excerpt
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia and epilepsy. The disease is caused by a pentanucleotide ATTCT expansion in intron 9 of the ATXN10 gene on chromosome 22q13.3. SCA10 has shown a geographical distribution throughout America with a likely degree of Amerindian ancestry from different countries so far. Currently...
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