Wider Christian, Wszolek Zbigniew K
Department of Neurology, Mayo Clinic College of Medicine, Cannaday Building 2E, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
Parkinsonism Relat Disord. 2008;14(1):1-7. doi: 10.1016/j.parkreldis.2007.07.014. Epub 2007 Sep 17.
Autosomal dominant parkinsonism, hypoventilation, depression and weight loss (Perry syndrome) has been reported in only seven families worldwide. It is a rapidly progressive disease leading to death from respiratory insufficiency within a few years. Parkinsonism is usually mild, with bradykinesia, rigidity, rest and postural tremor, and axial signs. Response to levodopa is poor although transient response has been occasionally observed. The early signs include parkinsonism, depression and weight loss, whereas hypoventilation is a late feature. Neuropathology shows severe neuronal loss in the substantia nigra, less prominent neuronal loss in the locus coeruleus, and no or few Lewy bodies. In this review, we also propose diagnostic criteria for this condition.
常染色体显性遗传性帕金森病、低通气、抑郁和体重减轻（佩里综合征）在全球仅7个家族中有报道。它是一种快速进展性疾病，数年内可因呼吸功能不全导致死亡。帕金森症状通常较轻，表现为运动迟缓、僵硬、静止性和姿势性震颤以及轴性体征。对左旋多巴的反应较差，不过偶尔也会观察到短暂反应。早期症状包括帕金森症状、抑郁和体重减轻，而低通气是晚期特征。神经病理学显示黑质有严重神经元丢失，蓝斑核神经元丢失不那么明显，且无路易小体或仅有少量路易小体。在本综述中，我们还提出了该病的诊断标准。
