Article
Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.
Neurogenetics - 1 Mar 2014
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
Abstract excerpt
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 epilepsy. SCA10 expansions containing penta- and heptanucleotide interruption motifs, termed "ATCCT interruptions,"...
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