Johansen Krisztina Kunszt, Torp Sverre Helge, Farrer Matthew J, Gustavsson Emil K, Aasly Jan O
Department of Neurology, St. Olavs University Hospital, Trondheim, Norway.
Department of Pathology, St. Olavs University Hospital, Trondheim, Norway.
Case Rep Neurol Med. 2018 Jun 28;2018:6838965. doi: 10.1155/2018/6838965. eCollection 2018.
Parkinson's disease (PD) is a clinical diagnosis based on the presence of cardinal motor signs, good response to levodopa, and no other explanations of the syndrome. Earlier diagnostic criteria required autopsy for a definite diagnosis based on neuronal loss in the substantia nigra pars compacta (SNpc) and the presence of Lewy bodies and neurites. Here, we present a patient who developed parkinsonism around the age of 20, with an excellent response to levodopa who, at age 65, received bilateral STN deep brain stimulation (DBS). The patient died at age 79. The autopsy showed severe neuronal loss in the SN without any Lewy bodies in the brainstem or in the hemispheres. Genetic screening revealed a homozygous deletion of exon 3-4 in the gene. In this case report we discuss earlier described pathological findings in cases without Lewy body pathology, the current diagnostic criteria for PD, and their clinical relevance.
帕金森病（PD）是一种基于主要运动体征的存在、对左旋多巴的良好反应以及该综合征无其他解释的临床诊断。早期的诊断标准需要尸检，以基于黑质致密部（SNpc）的神经元丢失以及路易小体和神经突的存在来明确诊断。在此，我们介绍一位在20岁左右出现帕金森综合征、对左旋多巴反应良好的患者，该患者在65岁时接受了双侧丘脑底核深部脑刺激（DBS）。患者于79岁去世。尸检显示黑质有严重的神经元丢失，脑干或半球中无任何路易小体。基因筛查显示该基因外显子3 - 4纯合缺失。在本病例报告中，我们讨论了早期描述的无路易小体病理的病例中的病理发现、当前PD的诊断标准及其临床相关性。
