Gaig Carles, Martí María José, Ezquerra Mario, Cardozo Adriana, Rey Maria Jesus, Tolosa Eduardo
Hospital Clínic i Universitari de Barcelona, Movement disorders Unit. Neurology Service, Villarroel 170, Barcelona, 08036, Spain.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.08.2008.0632. Epub 2009 Jan 23.
The G2019S leucine-rich repeat kinase 2 gene (LRRK2) mutation has been identified in a significant proportion of familial and sporadic cases of Parkinson's disease (PD). Until now, information on the neuropathological changes associated with the G2019S LRRK2 mutation has been sparse. We report a 77-year-old patient who presented with a 14 year history of PD but, unexpectedly, histopathological examination disclosed mild neuronal loss in the substantia nigra without α-synuclein, tau or ubiquitin cytoplasmic inclusions. A G2019S LRRK2 mutation was eventually detected. The present case confirms that clinical PD caused by G2019S mutations can be associated with non-specific nigral degeneration without Lewy.
在相当一部分帕金森病（PD）的家族性和散发性病例中已发现G2019S富亮氨酸重复激酶2基因（LRRK2）突变。到目前为止，与G2019S LRRK2突变相关的神经病理学变化的信息一直很少。我们报告了一名77岁的患者，其有14年的帕金森病病史，但出乎意料的是，组织病理学检查显示黑质有轻度神经元丢失，无α-突触核蛋白、tau或泛素细胞质包涵体。最终检测到G2019S LRRK2突变。本病例证实，由G2019S突变引起的临床帕金森病可能与无路易小体的非特异性黑质变性有关。
