Minimum prevalence of spinocerebellar ataxia 17 in the north east of England
作者： Kate Craig , Sharon M. Keers , Timothy J. Walls , Anne Curtis , Patrick F. Chinnery
DOI: 10.1016/J.JNS.2005.08.009
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摘要: Abstract Objective To determine the minimum prevalence of spinocerebellar ataxia type 17 (SCA17) in north east England. Patients and methods A defined region containing 2,516,500 individuals with 192 families undiagnosed ataxia, 90 patients a Huntington's disease-like phenotype 292 controls. The number (CAG/CAA) n repeats SCA17/ TBP gene was determined by fluorescent PCR sequenced affected individuals. Results mean repeat size for 584 control alleles 34 (S.D. = 3.58), ranging from 25 to 40. Two index cases had larger lengths greater than range. Affected family members presented adult life followed extrapyramidal features cognitive impairment. In one 44 were associated younger age onset has been previously described. Conclusions SCA17 England 0.16/100,000 (upper 95% confidence interval 0.31/100,000).
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