Furtado S, Farrer M, Tsuboi Y, Klimek M L, de la Fuente-Fernández R, Hussey J, Lockhart P, Calne D B, Suchowersky O, Stoessl A J, Wszolek Z K
Movement Disorder Clinic, Department of Clinical Neurosciences, University of Calgary, Alberta, Canada.
Neurology. 2002 Nov 26;59(10):1625-7. doi: 10.1212/01.wnl.0000035625.19871.dc.
The authors describe an Alberta family with levodopa-responsive parkinsonism without cerebellar abnormalities. Genetic testing showed expanded repeats for SCA-2; other mutations for parkinsonism were excluded. The expanded allele shows interruption of the CAG repeat with CAA. PET in two affected members showed reduced fluorodopa uptake in striatum and normal raclopride binding. Families with autosomal dominant, levodopa-responsive parkinsonism should be tested for the SCA-2 mutation.
作者描述了一个来自艾伯塔省的家族，该家族患有左旋多巴反应性帕金森综合征且无小脑异常。基因检测显示SCA - 2存在重复序列扩增；排除了帕金森综合征的其他突变。扩增的等位基因显示CAG重复序列被CAA中断。两名受影响成员的PET检查显示纹状体中氟多巴摄取减少，而雷氯必利结合正常。对于常染色体显性遗传的左旋多巴反应性帕金森综合征家族，应检测是否存在SCA - 2突变。
