Dekker M C J, Eshuis S A, Maguire R P, Veenma-van der Duijn L, Pruim J, Snijders P J L M, Oostra B A, van Duijn C M, Leenders K L
Genetic-Epidemiologic Unit, Departments of Epidemiology & Biostatistics and Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
J Neural Transm (Vienna). 2004 Dec;111(12):1575-81. doi: 10.1007/s00702-004-0165-4. Epub 2004 Jun 21.
Mutations in the DJ-1 gene lead to autosomal recessive early-onset parkinsonism. We performed F-DOPA and FDG PET neuroimaging in two parkinsonism patients homozygous for DJ-1 mutations, three relatives heterozygous for a DJ-1 mutation and one non-carrier, all from the originally described kindred from The Netherlands. Their characteristics were compared to those of typical Parkinson's disease patients and healthy controls. Both parkinsonism patients had reduced F-DOPA uptake concordant with typical Parkinson's disease. In the, clinically unaffected, heterozygous relatives, F-DOPA metabolism was unremarkable, thus not suggesting a dosage effect of the DJ-1 gene.
DJ-1基因突变会导致常染色体隐性早发性帕金森病。我们对两名DJ-1突变纯合子帕金森病患者、三名DJ-1突变杂合子亲属和一名非携带者进行了F-DOPA和FDG PET神经成像检查，他们均来自最初描述的荷兰家族。将他们的特征与典型帕金森病患者和健康对照者的特征进行了比较。两名帕金森病患者的F-DOPA摄取减少，与典型帕金森病一致。在临床上未受影响的杂合子亲属中，F-DOPA代谢无异常，因此不提示DJ-1基因的剂量效应。
