Morfis Litsa, Cordato Dennis John
Department of Aged Care, St George Hospital, Gray St, Kogarah, Sydney, New South Wales 2217, Australia.
J Clin Neurosci. 2006 Nov;13(9):942-4. doi: 10.1016/j.jocn.2005.11.040. Epub 2006 Oct 16.
We report the case of an elderly man of Greek background who presented with progressive cognitive decline and motor parkinsonism on a background of a strong family history of Parkinson's disease. Associated symptoms included visual hallucinations, excessive daytime drowsiness, recurrent falls, orthostatic hypotension and urinary incontinence. His major clinical symptoms and signs fulfilled consensus criteria for a clinical diagnosis of dementia with Lewy bodies. An alpha-synuclein gene mutation analysis for the G209A substitution was positive. We conclude that the alpha-synuclein (G209A) gene mutation genotype should be considered in the differential diagnosis of dementia with Lewy bodies, particularly in patients with European ancestry and a family history of Parkinson's disease.
我们报告了一例具有希腊背景的老年男性病例，该患者在帕金森病家族病史强烈的背景下，出现进行性认知衰退和运动性帕金森综合征。相关症状包括视幻觉、日间过度嗜睡、反复跌倒、体位性低血压和尿失禁。他的主要临床症状和体征符合路易体痴呆临床诊断的共识标准。针对G209A替代的α-突触核蛋白基因突变分析呈阳性。我们得出结论，在路易体痴呆的鉴别诊断中，应考虑α-突触核蛋白（G209A）基因突变基因型，特别是在有欧洲血统且有帕金森病家族史的患者中。
