PET neuroimaging and mutations in the DJ-1 gene
PET neuroimaging and mutations in the DJ-1 gene
复制标题
DOI：
10.1007/s00702-004-0165-4
复制
发表时间：
2004-12-01
影响因子：
3.3
通讯作者：
Leenders, KL
中科院分区：
文献类型：
--
作者：
Dekker, MCJ;Eshuis, SA;Leenders, KL
DJ-1基因突变导致常染色体隐性早发性帕金森综合征。我们对两名DJ-1突变纯合子的帕金森综合征患者、三名DJ-1突变杂合子的亲属和一名非携带者进行了F-DOPA和FDG PET神经成像，所有患者均来自荷兰。他们的特点进行了比较，典型的帕金森病患者和健康对照。这两个帕金森综合征患者的F-DOPA摄取减少与典型的帕金森病一致。在临床上未受影响的杂合子亲属中，F-DOPA代谢不显著，因此不表明DJ-1基因的剂量效应。
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.