去抑制-痴呆-帕金森综合征-肌萎缩复合征定位于17q21-22。
Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22.
作者信息
Wilhelmsen K C, Lynch T, Pavlou E, Higgins M, Nygaard T G
机构信息
Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032.
出版信息
Am J Hum Genet. 1994 Dec;55(6):1159-65.
Abstract
Disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) is defined by familial adult-onset behavioral disturbance, followed by frontal lobe dementia, parkinsonism, and amyotrophy in variable proportions. A genetic etiology of DDPAC was suspected because of the familial clustering in family Mo, despite their wide geographic distribution. We have mapped the DDPAC locus to a 12-cM (sex averaged) region between D17S800 and D17S787 on chromosome 17q21-22. The basis for the variability of the clinical findings and pathology in DDPAC is unknown but suggests that the DDPAC locus should be screened as a candidate locus in family studies of conditions with behavioral abnormalities and neurological degeneration.
摘要
去抑制-痴呆-帕金森综合征-肌萎缩复合体（DDPAC）的定义为家族性成人起病的行为障碍，随后出现不同比例的额叶痴呆、帕金森综合征和肌萎缩。尽管Mo家族成员分布在广泛的地理区域，但因其家族聚集性，怀疑DDPAC存在遗传病因。我们已将DDPAC基因座定位到17号染色体q21-22区域上D17S800和D17S787之间一个12厘摩（平均性别）的区域。DDPAC临床发现和病理变化的基础尚不清楚，但这表明在对有行为异常和神经退行性变的疾病进行家族研究时，应将DDPAC基因座作为候选基因座进行筛查。
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