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Neuropsychological abnormalities in first degree relativesof patients with familial Parkinsons disease

机译:一级亲属的神经心理异常家族性帕金森氏病的患者

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摘要

OBJECTIVE—To investigate the cognitive profile of first degree relatives of patients with familial Parkinson's disease to determine whether these subjects presented signs of neuropsychological dysfunction compared with healthy controls. Results of recent genetic and neuroimaging studies suggest a genetic contribution to the aetiology of Parkinson's disease and underline the interest in identifying preclinical signs of the disease.
METHODS—A battery of tests evaluating executive function was administered to 41 first degree relatives of patients with well documented familial Parkinson's disease and 39 healthy controls. A factorial discriminant analysis allowed isolation of a subgroup of 15 first degree relatives who could be considered as impaired compared with the healthy controls. Among these 15 "deviant" relatives, nine performed globally worse than the control subjects on all tasks. The six other subjects had mean or even high scores on all task variables, except on those highly correlated with the discriminant score of the factorial discriminant analysis.
RESULTS AND CONCLUSION— Among the first degree relatives ofpatients with familial Parkinson's disease, some manifested executivedysfunction comparable with that typically associated with the disease.Such impairment could represent a preclinical form of Parkinson's disease.

机译:目的-调查家族性帕金森氏病患者一级亲属的认知情况,以确定与健康对照组相比,这些受试者是否表现出神经心理功能障碍的迹象。最近的遗传和神经影像学研究结果表明,遗传对帕金森病的病因有贡献,并强调了对该疾病临床前体征的兴趣。
方法-对41位一级亲属进行了一系列评估执行功能的测试家族性帕金森氏病和39名健康对照的患者。析因判别分析允许隔离15个一级亲戚的亚组,与健康对照组相比,这些亲戚可以被认为是有障碍的。在这15个“反常”亲戚中,有9个在所有任务上的表现都比对照组差。除与因式判别分析的判别得分高度相关的那些变量外,其他六个受试者在所有任务变量上的得分均值甚至高分。
结果与结论—家族性帕金森氏病的患者,有些表现为执行与通常与该疾病有关的功能异常相当。这种损伤可能代表了帕金森氏病的临床前形式。

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