尸检证实了多个系统萎缩病例：梅奥经验和自主功能测试的作用。
Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests.
机构信息
Neurovascular and Autonomic Medicine Unit, Imperial College London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):453-9. doi: 10.1136/jnnp-2011-301068. Epub 2012 Jan 6.
BACKGROUND
Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder characterised by autonomic failure, manifested as orthostatic hypotension or urogenital dysfunction, with combinations of parkinsonism that is poorly responsive to levodopa, cerebellar ataxia and corticospinal dysfunction. Published autopsy confirmed cases have provided reasonable neurological characterisation but have lacked adequate autonomic function testing.
OBJECTIVES
To retrospectively evaluate if the autonomic characterisation of MSA is accurate in autopsy confirmed MSA and if consensus criteria are validated by autopsy confirmation.
METHODS
29 autopsy confirmed cases of MSA evaluated at the Mayo Clinic who had undergone formalised autonomic testing, including adrenergic, sudomotor and cardiovagal functions and Thermoregulatory Sweat Test (TST), from which the Composite Autonomic Severity Score (CASS) was derived, were included in the study.
PATIENT CHARACTERISTICS
17 men, 12 women; age of onset 57±8.1 years; disease duration to death 6.5±3.3 years; first symptom autonomic in 18, parkinsonism in seven and cerebellar in two. Clinical phenotype at first visit was MSA-P (predominant parkinsonism) in 18, MSA-C (predominant cerebellar involvement) in eight, pure autonomic failure in two and Parkinson's disease in one. Clinical diagnosis at last visit was MSA for 28 cases. Autonomic failure was severe: CASS was 7.2±2.3 (maximum 10). TST% was 65.6±33.9% and exceeded 30% in 82% of patients. The most common pattern was global anhidrosis. Norepinephrine was normal supine (203.6±112.7) but orthostatic increment of 33.5±23.2% was reduced. Four clinical features (rapid progression, early postural instability, poor levodopa responsiveness and symmetric involvement) were common.
CONCLUSION
The pattern of severe and progressive generalised autonomic failure with severe adrenergic and sudomotor failure combined with the clinical phenotype is highly predictive of MSA.
背景
多系统萎缩（MSA）是一种散发性进行性神经退行性疾病，其特征为自主神经功能衰竭，表现为直立性低血压或泌尿生殖功能障碍，伴有对左旋多巴反应不佳的帕金森综合征、小脑共济失调和皮质脊髓功能障碍。已发表的尸检确诊病例提供了合理的神经学特征描述，但缺乏充分的自主功能测试。
目的
回顾性评估 MSA 的自主神经特征在尸检确诊 MSA 中的准确性，以及共识标准是否通过尸检确诊得到验证。
方法
纳入了在 Mayo 诊所接受过正式自主功能测试的 29 例尸检确诊 MSA 患者，包括肾上腺素能、汗腺和心脏迷走神经功能，以及热敏出汗试验（TST），从中得出综合自主严重程度评分（CASS）。
患者特征
17 名男性，12 名女性；发病年龄 57±8.1 岁；从发病到死亡的病程为 6.5±3.3 年；首发症状为自主神经 18 例，帕金森病 7 例，小脑 2 例。首次就诊时的临床表型为 MSA-P（主要为帕金森病）18 例，MSA-C（主要为小脑受累）8 例，单纯自主神经衰竭 2 例，帕金森病 1 例。最后一次就诊时，28 例临床诊断为 MSA。自主神经衰竭严重：CASS 为 7.2±2.3（最高 10）。TST%为 65.6±33.9%，82%的患者超过 30%。最常见的模式是全身性无汗。卧位时去甲肾上腺素正常（203.6±112.7），但 33.5±23.2%的直立位增加减少。四个临床特征（快速进展、早期姿势不稳、左旋多巴反应不佳和对称受累）很常见。
结论
严重且进行性的全身性自主神经衰竭伴严重肾上腺素能和汗腺衰竭，加上临床表型，高度提示 MSA。
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