Lin David J, Hermann Katherine L, Schmahmann Jeremy D
Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.
Cerebellum. 2016 Dec;15(6):663-679. doi: 10.1007/s12311-015-0728-y.
The objective of this study was to identify key features differentiating multiple system atrophy cerebellar type (MSA-C) from idiopathic late-onset cerebellar ataxia (ILOCA). We reviewed records of patients seen in the Massachusetts General Hospital Ataxia Unit between 1992 and 2013 with consensus criteria diagnoses of MSA-C or ILOCA. Twelve patients had definite MSA-C, 53 had possible/probable MSA-C, and 12 had ILOCA. Autonomic features, specifically urinary urgency, frequency, and incontinence with erectile dysfunction in males, differentiated MSA-C from ILOCA throughout the disease course (p = 0.005). Orthostatic hypotension developed later and differentiated MSA-C from ILOCA (p < 0.01). REM sleep behavior disorder (RBD) occurred early in possible/probable MSA-C (p < 0.01). Late MSA-C included pathologic laughing and crying (PLC, p < 0.01), bradykinesia (p = 0.01), and corticospinal findings (p = 0.01). MRI distinguished MSA-C from ILOCA by atrophy of the brainstem (p < 0.01) and middle cerebellar peduncles (MCP, p = 0.02). MSA-C progressed faster than ILOCA: by 6 years, MSA-C walker dependency was 100 % and ILOCA 33 %. MSA-C survival was 8.4 ± 2.5 years. Mean length of ILOCA illness to date is 15.9 ± 6.4 years. A sporadic onset, insidiously developing cerebellar syndrome in midlife, with autonomic features of otherwise unexplained bladder dysfunction with or without erectile dysfunction in males, and atrophy of the cerebellum, brainstem, and MCP points strongly to MSA-C. RBD and postural hypotension confirm the diagnosis. Extrapyramidal findings, corticospinal tract signs, and PLC are helpful but not necessary for diagnosis. Clarity in early MSA-C diagnosis can prevent unnecessary investigations and facilitate therapeutic trials.
本研究的目的是确定区分多系统萎缩小脑型（MSA-C）与特发性迟发性小脑共济失调（ILOCA）的关键特征。我们回顾了1992年至2013年间在马萨诸塞州总医院共济失调科就诊的患者记录，这些患者根据共识标准被诊断为MSA-C或ILOCA。12例患者确诊为MSA-C，53例可能/疑似MSA-C，12例为ILOCA。自主神经功能特征，特别是尿急、尿频和尿失禁伴男性勃起功能障碍，在整个病程中可将MSA-C与ILOCA区分开来（p = 0.005）。直立性低血压出现较晚，可将MSA-C与ILOCA区分开来（p < 0.01）。快速眼动睡眠行为障碍（RBD）在可能/疑似MSA-C患者中出现较早（p < 0.01）。晚期MSA-C包括病理性哭笑（PLC，p < 0.01）、运动迟缓（p = 0.01）和皮质脊髓束征（p = 0.01）。MRI通过脑干萎缩（p < 0.01）和小脑中脚（MCP，p = 0.02）将MSA-C与ILOCA区分开来。MSA-C的进展比ILOCA更快：6年后，MSA-C患者依赖步行的比例为100%，ILOCA为33%。MSA-C患者的生存期为8.4±2.5年。ILOCA患者至今的平均病程为15.9±6.4年。中年时散发性起病、隐匿性发展的小脑综合征，伴有自主神经功能特征，表现为不明原因的膀胱功能障碍，伴或不伴男性勃起功能障碍，以及小脑、脑干和MCP萎缩，强烈提示为MSA-C。RBD和体位性低血压可确诊。锥体外系征、皮质脊髓束征和PLC对诊断有帮助，但不是必需的。早期MSA-C诊断明确可避免不必要的检查并便于进行治疗试验。
