Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures

Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant neurodegenerative disorder, is the result of a non-coding, pentanucleotide repeat expansion within intron 9 of the Ataxin 10 gene. SCA10 patients present with pure cerebellar ataxia; yet, some families also have a high incidence of epilep...

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Bibliographic Details
Published in:	Neurogenetics Vol. 15; no. 1; pp. 59 - 64
Main Authors:	McFarland, Karen N., Liu, Jilin, Landrian, Ivette, Zeng, Desmond, Raskin, Salmo, Moscovich, Mariana, Gatto, Emilia M., Ochoa, Adriana, Teive, Hélio A. G., Rasmussen, Astrid, Ashizawa, Tetsuo
Format:	Journal Article
Language:	English
Published:	Berlin/Heidelberg Springer Berlin Heidelberg 01-03-2014 Springer Nature B.V
Subjects:	Adult Alleles Biomedical and Life Sciences Biomedicine Cluster Analysis Cohort Studies Convulsions & seizures DNA Repeat Expansion - genetics Epilepsy Epilepsy - ethnology Epilepsy - genetics Female Genetic Association Studies Genetic disorders Genotype & phenotype Haplotypes Human Genetics Humans Male Mexico Microsatellite Repeats Middle Aged Molecular Medicine Neurological disorders Neurosciences Original Article Phenotype Risk Sequence Analysis, DNA Spinocerebellar Ataxias - genetics Mexico Repeat interruptions SCA10 Repeat expansion Ataxia Epileptic seizures Phenotype–genotype correlation
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