Garg Nidhi, Park Susanna B, Vucic Steve, Yiannikas Con, Spies Judy, Howells James, Huynh William, Matamala José M, Krishnan Arun V, Pollard John D, Cornblath David R, Reilly Mary M, Kiernan Matthew C
Brain and Mind Centre, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
Departments of Neurology and Neurophysiology, Westmead Hospital, The University of Sydney, Sydney, New South Wales, Australia.
J Neurol Neurosurg Psychiatry. 2017 Jun;88(6):474-483. doi: 10.1136/jnnp-2016-313526. Epub 2016 Dec 21.
Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted in the identification of a variety of disease-causing mutations. Immune-mediated disorders, including multifocal motor neuropathy and variants of chronic inflammatory demyelinating polyneuropathy, account for a proportion of LMN presentations and are important to recognise, as effective treatments are available. The present review will outline the spectrum of LMN syndromes that may develop in adulthood and provide a framework for the clinician assessing a patient presenting with predominantly LMN features.
下运动神经元(LMN)综合征通常表现为肌肉萎缩和无力,可能由影响远端运动神经直至前角细胞水平的病变引起。已确认多种遗传病因,包括脊髓性肌萎缩症、远端遗传性运动神经病以及家族性运动神经元病的下运动神经元变异型。近期的遗传学进展已导致鉴定出多种致病突变。免疫介导的疾病,包括多灶性运动神经病和慢性炎症性脱髓鞘性多发性神经病的变异型,占下运动神经元表现的一定比例,且由于有有效的治疗方法,因此识别这些疾病很重要。本综述将概述成年期可能发生的下运动神经元综合征谱,并为评估主要表现为下运动神经元特征的患者的临床医生提供一个框架。