G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies
G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies
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DOI：
10.1136/jnnp.2006.107904
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发表时间：
2007-06-01
影响因子：
11
通讯作者：
Tolosa, Eduardo
中科院分区：
文献类型：
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作者：
Gaig, Carles;Marti, Maria Jose;Tolosa, Eduardo
G2019 S富含亮氨酸重复序列激酶2基因（LRRK 2）突变已被确定在一个显着比例的家族性和散发性帕金森病（PD）病例。到目前为止，与G2019 S LRRK 2突变相关的神经病理学变化的信息很少。我们报告了一个77岁的病人谁提出了一个14年的历史PD，但出乎意料的是，组织病理学检查发现轻度的黑质神经元损失没有α-突触核蛋白，tau蛋白或泛素细胞质夹杂物。最终检测到G2019 S LRRK 2突变。本病例证实，G2019 S突变引起的临床PD可能与无路易体的非特异性黑质变性相关。
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 alpha-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 bodies.