920 Clinical Neurophysiology, Department of Neurology, Radboud University Nijmegen Medical Center, Reinier Postlaan 4, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.
Nat Rev Neurol. 2011 May 10;7(6):315-22. doi: 10.1038/nrneurol.2011.62.
Neuralgic amyotrophy--also known as Parsonage-Turner syndrome or brachial plexus neuritis--is a distinct and painful peripheral neuropathy that causes episodes of multifocal paresis and sensory loss in a brachial plexus distribution with concomitant involvement of other PNS structures (such as the lumbosacral plexus or phrenic nerve) in a large number of patients. The phenotype can be limited or extensive and the amount of disability experienced also varies between patients, but many are left with residual disabilities that affect their ability to work and their everyday life. Both idiopathic and hereditary forms exist. The latter form is genetically heterogeneous, but in 55% of affected families, neuralgic amyotrophy is associated with a point mutation or duplication in the SEPT9 gene on chromosome 17q25. The disease is thought to result from an underlying genetic predisposition, a susceptibility to mechanical injury of the brachial plexus (possibly representing disturbance of the epineurial blood-nerve barrier), and an immune or autoimmune trigger for the attacks. The precise pathophysiological mechanisms are still unclear; treatment is empirical, and preventive measures are not yet available. This Review provides an overview of the current clinical and pathophysiological concepts and research topics in neuralgic amyotrophy.
神经痛性肌萎缩症——也称为颈肋神经病或臂丛神经炎——是一种独特而疼痛的周围神经病，可导致臂丛分布的多灶性弛缓性瘫痪和感觉丧失，并伴有大量患者的其他周围神经系统结构（如腰骶丛或膈神经）受累。表型可以是局限性的或广泛性的，患者之间的残疾程度也不同，但许多患者仍留有影响其工作和日常生活能力的残余残疾。存在特发性和遗传性两种形式。后者在遗传上具有异质性，但在 55%的受累家族中，神经痛性肌萎缩症与染色体 17q25 上 SEPT9 基因的点突变或重复有关。该疾病被认为是由潜在的遗传易感性、臂丛神经易受机械损伤（可能代表神经外膜血液-神经屏障的紊乱）以及对攻击的免疫或自身免疫触发引起的。确切的病理生理机制仍不清楚；治疗是经验性的，预防措施尚不可用。本综述提供了神经痛性肌萎缩症当前临床和病理生理学概念和研究课题的概述。
