Chen X, Xia Y, Gresham L S, Molgaard C A, Thomas R G, Galasko D, Wiederholt W C, Saitoh T
Department of Neurosciences, University of California, San Diego, La Jolla 92093-0624, USA.
Neurology. 1996 Sep;47(3):779-84. doi: 10.1212/wnl.47.3.779.
Parkinsonism-dementia complex (PDC), a neurodegenerative disorder in the Chamorro, Guam population, has been epidemiologically ascribed to the ingestion of the neurotoxin cycasin. This disease is characterized neuropathologically by the presence of abundant neurofibrillary tangles (NFTs). We analyzed a genetic risk factor of Alzheimer's disease (AD), apolipoprotein E, hypothesized to be linked to NFT formation, and a genetic risk factor of Parkinson's disease (PD), CYP2D6 mutation, linked to slower metabolism of exogenous toxins, in Chamorro, Guam individuals with and without PDC. The representation of the G-to-C mutation in exon 9 of the CYP2D6 gene was higher in Chamorro and Filipino than in Caucasian individuals, but this mutant allele had similar high frequencies in both PDC patients and healthy Chamorro individuals. We found no alleles of these genes associated with AD or PD to be overrepresented among those with PDC.
帕金森病-痴呆综合征（PDC）是查莫罗人（关岛居民）中的一种神经退行性疾病，从流行病学角度来看，它被归因于摄入神经毒素苏铁素。这种疾病在神经病理学上的特征是存在大量神经原纤维缠结（NFTs）。我们分析了阿尔茨海默病（AD）的一个遗传风险因素——载脂蛋白E（据推测与NFT形成有关），以及帕金森病（PD）的一个遗传风险因素——CYP2D6突变（与外源性毒素代谢较慢有关），对象为关岛查莫罗族有或没有PDC的个体。CYP2D6基因第9外显子中G到C突变的比例在查莫罗人和菲律宾人中高于高加索人，但这种突变等位基因在PDC患者和健康的查莫罗个体中的频率都同样高。我们发现这些与AD或PD相关的基因的等位基因在患有PDC的人群中并没有过度出现。
