Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Rua Estado de Israel, 899, 04022-002 Vila Clementino, São Paulo SP, Brazil.
Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), Rua Estado de Israel, 899, 04022-002 Vila Clementino, São Paulo SP, Brazil.
Rev Neurol (Paris). 2019 Apr;175(4):221-232. doi: 10.1016/j.neurol.2018.04.016. Epub 2019 Mar 4.
Motor neuron disease (MND) represents a wide and heterogeneous expanding group of disorders involving the upper or lower motor neurons, mainly represented by amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, progressive muscular atrophy and progressive bulbar palsy. Primary motor neuronopathies are characterized by progressive degenerative loss of anterior horn cell motoneurons (lower motor neurons) or loss of giant pyramidal Betz cells (upper motor neurons). Despite its well-known natural history, pathophysiological and clinical characteristics for the most common MND, atypical clinical presentation and neurodegenerative mechanisms are commonly observed in rare clinical entities, so-called atypical variants of MND-ALS, including flail-leg syndrome, flail-arm syndrome, facial-onset sensory and motor neuronopathy (FOSMN), finger extension weakness and downbeat nystagmus (FEWDON-MND) and long-lasting and juvenile MND-ALS. Herein, we provide a review article presenting clinical, genetic, pathophysiological and neuroimaging findings of atypical variants of MND-ALS in clinical practice.
运动神经元病（MND）代表了一组广泛且异质的扩展障碍，涉及上运动神经元或下运动神经元，主要由肌萎缩侧索硬化症（ALS）、原发性侧索硬化症、进行性肌肉萎缩症和进行性延髓麻痹症组成。原发性运动神经元病的特征是前角细胞运动神经元（下运动神经元）进行性退行性丧失或巨大锥体细胞贝茨细胞（上运动神经元）丧失。尽管 MND 的自然病史、病理生理学和临床特征为最常见的 MND 所知，但罕见的临床实体中通常观察到不典型的临床表现和神经退行性机制，即所谓的 MND-ALS 不典型变异，包括连枷腿综合征、连枷臂综合征、面部起始感觉和运动神经元病（FOSMN）、手指伸展无力和下斜性眼球震颤（FEWDON-MND）以及长期和青少年 MND-ALS。在此，我们提供了一篇综述文章，介绍了临床、遗传、病理生理学和神经影像学在临床实践中对 MND-ALS 不典型变异的发现。
