Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10

摘要: Triplet repeat expansions are the disease-causing mutations in nine dominantly inherited spinocerebellar ataxias (SCAs).1 In 2000, a new type of dynamic mutation was reported Mexican patients with SCA and seizures, consisting (ATTCT)n expansion found intron 9 SCA10 gene2; normal alleles have 10 to 29 pathologic 800 4,500 repeats. We studied 329 unrelated patients. Ataxia sometimes associated other features, such as epilepsy, mental retardation, paraplegia, or tremor; 290 were Portuguese, 39 from Brazil. Peripheral blood collected their relatives, after written informed consent. The amplified by PCR flanking primers Southern blot performed described elsewhere.2,3 The modified analysis for showed that three (figure, A B), two Brazilian families, an admixture Portuguese Amerindian ancestry, had continuous ladder exceeding product range observed at locus. These first shown single band allele sizing C). Expansion size assessment D) identified one 400 repeats Patient II-2 …