Department of Neurology, University of Michigan, 5013 BSRB, 109 Zina Pitcher Place, Ann Arbor, Michigan 48109, USA.
Muscle Nerve. 2011 Jan;43(1):19-25. doi: 10.1002/mus.21777.
Recently, we reported that mutations in the neuropathy target esterase (NTE) gene cause autosomal recessive motor neuron disease (NTE-MND). We describe clinical, neurophysiologic, and neuroimaging features of affected subjects in the index families. NTE-MND subjects exhibited progressive lower extremity spastic weakness that began in childhood and was later associated with atrophy of distal leg and intrinsic hand muscles. NTE-MND resembles Troyer syndrome, except that short stature, cognitive impairment, and dysmorphic features, which often accompany Troyer syndrome, are not features of NTE-MND. Early onset, symmetry, and slow progression distinguish NTE-MND from typical amyotrophic lateral sclerosis. NTE is implicated in organophosphorus compound-induced delayed neurotoxicity (OPIDN). NTE-MND patients have upper and lower motor neuron deficits that are similar to OPIDN. Motor neuron degeneration in subjects with NTE mutations supports the role of NTE and its biochemical cascade in the molecular pathogenesis of OPIDN and possibly other degenerative neurologic disorders.
最近，我们报道了神经毒性酯酶（NTE）基因突变导致常染色体隐性运动神经元病（NTE-MND）。我们描述了索引家族中受影响个体的临床、神经生理和神经影像学特征。NTE-MND 患者表现出进行性下肢痉挛性无力，始于儿童期，随后与远端腿部和手部内在肌肉萎缩相关。NTE-MND 类似于 Troyer 综合征，但 Troyer 综合征常伴有身材矮小、认知障碍和畸形特征，而这些并非 NTE-MND 的特征。早发、对称和缓慢进展将 NTE-MND 与典型的肌萎缩侧索硬化症区分开来。NTE 参与有机磷化合物诱导的迟发性神经毒性（OPIDN）。NTE-MND 患者存在上下运动神经元缺陷，类似于 OPIDN。NTE 突变患者的运动神经元退化支持 NTE 及其生化级联在 OPIDN 及可能其他退行性神经疾病的分子发病机制中的作用。
