Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA.
Neurology. 2010 Aug 10;75(6):494-9. doi: 10.1212/WNL.0b013e3181ec7fac. Epub 2010 Jul 28.
Idiopathic REM sleep behavior disorder (RBD) may be the initial manifestation of synucleinopathies (Parkinson disease [PD], multiple system atrophy [MSA], or dementia with Lewy bodies [DLB]).
We used the Mayo medical records linkage system to identify cases presenting from 2002 to 2006 meeting the criteria of idiopathic RBD at onset, plus at least 15 years between RBD and development of other neurodegenerative symptoms. All patients underwent evaluations by specialists in sleep medicine to confirm RBD, and behavioral neurology or movement disorders to confirm the subsequent neurodegenerative syndrome.
Clinical criteria were met by 27 patients who experienced isolated RBD for at least 15 years before evolving into PD, PD dementia (PDD), DLB, or MSA. The interval between RBD and subsequent neurologic syndrome ranged up to 50 years, with the median interval 25 years. At initial presentation, primary motor symptoms occurred in 13 patients: 9 with PD, 3 with PD and mild cognitive impairment (MCI), and 1 with PDD. Primary cognitive symptoms occurred in 13 patients: 10 with probable DLB and 3 with MCI. One patient presented with primary autonomic symptoms, diagnosed as MSA. At most recent follow-up, 63% of patients progressed to develop dementia (PDD or DLB). Concomitant autonomic dysfunction was confirmed in 74% of all patients.
These cases illustrate that the alpha-synuclein pathogenic process may start decades before the first symptoms of PD, DLB, or MSA. A long-duration preclinical phase has important implications for epidemiologic studies and future interventions designed to slow or halt the neurodegenerative process.
特发性 REM 睡眠行为障碍(RBD)可能是突触核蛋白病(帕金森病 [PD]、多系统萎缩 [MSA] 或路易体痴呆 [DLB])的初始表现。
我们使用梅奥医疗记录链接系统来识别从 2002 年到 2006 年期间符合初始 RBD 诊断标准且 RBD 与其他神经退行性症状出现之间至少间隔 15 年的病例。所有患者均接受睡眠医学专家评估以确认 RBD,并由行为神经病学或运动障碍专家评估以确认随后的神经退行性综合征。
27 例患者经历了孤立性 RBD,至少 15 年才发展为 PD、PD 痴呆(PDD)、DLB 或 MSA。RBD 与后续神经综合征之间的间隔时间长达 50 年,中位数间隔时间为 25 年。在初始表现时,13 例患者出现原发性运动症状:9 例 PD、3 例 PD 伴轻度认知障碍(MCI)和 1 例 PDD。13 例患者出现原发性认知症状:10 例可能为 DLB 和 3 例 MCI。1 例患者出现原发性自主神经症状,诊断为 MSA。在最近一次随访时,63%的患者进展为痴呆(PDD 或 DLB)。所有患者中 74%存在并存自主神经功能障碍。
这些病例说明,α-突触核蛋白的致病过程可能在 PD、DLB 或 MSA 的首发症状出现前数十年就已开始。较长的临床前期阶段对流行病学研究和未来旨在减缓或阻止神经退行性过程的干预措施具有重要意义。