Broussolle E, Lücking C B, Ginovart N, Pollak P, Remy P, Dürr A
Department of Neurology, Hôpital Neurologique Pierre Wertheimer, Lyon, France.
Neurology. 2000 Sep 26;55(6):877-9. doi: 10.1212/wnl.55.6.877.
+Parkin gene mutations cause a form of early-onset autosomal recessive PD with neuronal loss in the substantia nigra and no Lewy bodies. The authors present a PET [18F]-dopa study of one familial and two sporadic cases with juvenile-onset PD resulting from parkin gene mutations. They found a profound decrease of [18F]-dopa uptake, representing 28% of putamen and 44% of caudate nucleus control subject values. PD caused by parkin gene mutations is distinct from idiopathic PD on molecular grounds but has similar clinical and PET findings.
帕金基因突变会导致一种早发性常染色体隐性帕金森病，其特征为黑质神经元丢失且无路易小体。作者展示了一项针对一例家族性和两例散发性青少年帕金森病患者的正电子发射断层扫描（PET）[18F] - 多巴研究，这些患者均由帕金基因突变引起。他们发现[18F] - 多巴摄取显著降低，壳核摄取量仅为对照受试者值的28%，尾状核摄取量为44%。从分子层面来看，由帕金基因突变导致的帕金森病与特发性帕金森病不同，但具有相似的临床和PET表现。
