Natural history of pure autonomic failure: A United States prospective cohort.
Natural history of pure autonomic failure: A United States prospective cohort.
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DOI：
10.1002/ana.24877
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发表时间：
2017-02
影响因子：
11.2
通讯作者：
Autonomic Disorders Consortium
中科院分区：
文献类型：
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作者：
Kaufmann H;Norcliffe-Kaufmann L;Palma JA;Biaggioni I;Low PA;Singer W;Goldstein DS;Peltier AC;Shibao CA;Gibbons CH;Freeman R;Robertson D;Autonomic Disorders Consortium
确定预测哪些单纯自主神经功能衰竭患者将发展为帕金森病、路易体痴呆或多系统萎缩的临床特征和生物标志物。在美国的5个医学中心招募了100名单纯自主神经功能衰竭的患者，其中74名患者同意接受前瞻性随访。患者接受了临床评估，包括神经功能评定量表，睡眠问卷调查，嗅觉测试，交感神经和副交感神经心血管自主神经功能测试。入组时，患者年龄为68（12）岁[（中位数（四分位距）]，自主神经功能衰竭5（7）年。在4年的随访中，74例受试者中有25例（34%）发生路易体痴呆（13例）、帕金森病（6例）或多系统萎缩（6例）。可能的REM睡眠行为障碍的存在与明显的CNS突触核蛋白病的发展密切相关（比值比=7.1）。表型转化为多系统萎缩的患者在自主神经功能衰竭、严重膀胱/肠功能障碍、嗅觉保留和倾斜>10次/分钟时的心脏变时性反应发生时年龄较小。那些表型转化为帕金森病或路易体痴呆的人嗅觉下降，对倾斜的时间营养反应较弱，疾病持续时间较长。保留纯自主神经衰竭表型的一小组患者血浆去甲肾上腺素水平非常低，静息心率缓慢，无REM睡眠行为障碍，嗅觉保留。表现为单纯自主神经功能衰竭的患者发生表型转化为明显的CNS突触核蛋白病的风险很高。具体的临床特征预测未来的诊断。
To define the clinical features and biomarkers that predict which patients with pure autonomic failure will develop Parkinson disease, dementia with Lewy bodies, or multiple system atrophy. One hundred patients who presented with pure autonomic failure were recruited at 5 medical centers in the U.S. Seventy-four patients agreed to be followed prospectively. Patients underwent clinical evaluations including neurological rating scales, sleep questionnaires, smell test, and sympathetic and parasympathetic cardiovascular autonomic function tests. At enrollment, patients were 68(12) years old [(median (interquartile range)] and had had autonomic failure for 5(7) years. Within 4-years of follow-up, 25 of 74 subjects (34%) developed dementia with Lewy bodies (in 13), Parkinson disease (in 6), or multiple system atrophy (in 6). The presence of probable REM sleep behavior disorder was strongly associated with the development of a manifest CNS synucleinopathy (odds ratio=7.1). Patients who phenoconverted to multiple system atrophy had younger age at onset of autonomic failure, severe bladder/bowel dysfunction, preserved olfaction, and a cardiac chronotrophic response upon tilt >10 beats per minute. Those who phenoconverted to Parkinson disease or dementia with Lewy bodies had decreased olfaction, a lesser chronotrophic response to tilt, and a longer duration of illness. The small group of patients retaining the pure autonomic failure phenotype had very low plasma norepinephrine levels, slow resting heart rate, no REM sleep behavior disorder, and preserved smell. Patients presenting with pure autonomic failure are at high risk of phenoconverting to a manifest CNS synucleinopathy. Specific clinical features predict future diagnosis.