Lockhart Paul J, Kachergus Jennifer, Lincoln Sarah, Hulihan Mary, Bisceglio Gina, Thomas Natalie, Dickson Dennis, Farrer Matthew J
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
J Mol Neurosci. 2004;24(3):337-42. doi: 10.1385/JMN:24:3:337.
Lewy body disease (LBD) refers to a heterogeneous group of disorders presenting with parkinsonism and Lewy body (LB) formation. Although the relationship between dementing syndromes with LBs, Parkinson's disease, and Alzheimer's disease is unclear, the former constitute a common form of degenerative dementia and may account for up to 20% of cases in the elderly. We recently demonstrated triplication of the alpha-synuclein gene as the cause of disease in the Spellman-Muenter kindred. Neuropathological examination of affected members of the kindred demonstrated extensive LB pathology consistent with diffuse LBD. We examined a large collection of pathologically confirmed LBD cases and found no evidence for multiplication of the alpha-synuclein gene, suggesting that this mechanism is not a common cause of LBD.
路易体病（LBD）指的是一组表现为帕金森综合征和路易体（LB）形成的异质性疾病。尽管伴有路易体的痴呆综合征、帕金森病和阿尔茨海默病之间的关系尚不清楚，但前者构成了一种常见的退行性痴呆形式，在老年人中可能占病例的20%。我们最近证明，α-突触核蛋白基因的三倍体是斯皮尔曼-穆恩特家族性疾病的病因。对该家族受影响成员的神经病理学检查显示，广泛的路易体病理与弥漫性路易体病一致。我们检查了大量经病理证实的路易体病病例，未发现α-突触核蛋白基因倍增的证据，这表明该机制并非路易体病的常见病因。
