Pradat P-F, Bruneteau G
Fédération des Maladies du Système Nerveux, Hôpital de la Pitié-Salpêtrière, Paris.
Rev Neurol (Paris). 2006 Jun;162 Spec No 2:4S29-4S33.
Amyotrophic lateral sclerosis (ALS) is characterized by significant clinical variability. Different subsets are classically individualized: bulbar onset and limb onset ALS, sporadic and familial ALS, ALS-plus syndromes (characterized by the presence of atypical clinical features, e.g. extrapyramidal signs or dementia, in association with the classical phenotype of ALS) and Western Pacific ALS. In addition, ALS-related syndromes include progressive muscular atrophy, primary lateral sclerosis and progressive bulbar palsy. The recognition of ALS subsets and ALS-related syndromes is important in clinical practice since the prognosis may vary depending on the clinical presentation. The prognosis of bulbar-onset ALS is poor compared with the spinal-onset type. Primary lateral sclerosis, defined by pure upper motor neuron findings, has a more benign course than classical ALS. It has also important implications for therapeutic trials to ensure the homogeneity of clinical material since inclusion of atypical forms with different prognoses can skew the outcome analysis. This paper reviews the clinical characteristics of the ALS subsets and ALS-related syndromes.
肌萎缩侧索硬化症(ALS)具有显著的临床变异性。不同的亚组通常有各自的特点:延髓起病型和肢体起病型ALS、散发性和家族性ALS、ALS加综合征(其特征是在ALS的经典表型基础上伴有非典型临床特征,如锥体外系体征或痴呆)以及西太平洋ALS。此外,与ALS相关的综合征包括进行性肌肉萎缩、原发性侧索硬化症和进行性延髓麻痹。在临床实践中,识别ALS亚组和与ALS相关的综合征很重要,因为预后可能因临床表现而异。与脊髓起病型相比,延髓起病型ALS的预后较差。由单纯上运动神经元表现定义的原发性侧索硬化症,其病程比经典ALS更为良性。这对于确保临床试验中临床材料的同质性也具有重要意义,因为纳入具有不同预后的非典型形式可能会使结果分析产生偏差。本文综述了ALS亚组和与ALS相关综合征的临床特征。