Sabatelli Mario, Zollino Marcella, Luigetti Marco, Grande Alessandra Del, Lattante Serena, Marangi Giuseppe, Monaco Mauro Lo, Madia Francesca, Meleo Emiliana, Bisogni Giulia, Conte Amelia
Istituto di Neurologia, Università Cattolica del Sacro, Rome, Italy.
Amyotroph Lateral Scler. 2011 Jul;12(4):278-82. doi: 10.3109/17482968.2011.580849.
The aim of our study was to analyse the natural history and clinical features of upper motor neuron- dominant (UMN-D) ALS. We studied a large series of sporadic ALS patients admitted in a single referral centre over a 23-year period. UMN-D phenotype was compared with other ALS forms, including classic ALS, flail arm and progressive muscular atrophy. Seven hundred and thirty-four sporadic ALS patients were included of which 163 had UMN-D ALS. The mean age of onset in UMN-D ALS (52 years) was 10 years lower than in classic ALS (61.4 years, p < 0.0001); sex ratio by age groups significantly differed with respect to other phenotypes. The pattern of spread of lower motor neuron signs in UMN-D was characterized by early involvement of upper limb muscles and late impairment of respiratory muscles. Duration of the disease was longer in the UMN-D group (56 months) than in classic ALS (33 months, p < 0.001). The UMN-D phenotype was a strong independent predictor of long survival. In summary, UMN-D ALS showed significant differences in age of onset, sex ratio, pattern of spreading and prognosis with respect to other ALS forms, most probably reflecting biological differences.
我们研究的目的是分析上运动神经元为主型（UMN-D）肌萎缩侧索硬化（ALS）的自然病史和临床特征。我们研究了在一个单一转诊中心23年间收治的一大系列散发性ALS患者。将UMN-D表型与其他ALS类型进行比较，包括经典型ALS、连枷臂型和进行性肌肉萎缩型。纳入了734例散发性ALS患者，其中163例为UMN-D ALS。UMN-D ALS的平均发病年龄（52岁）比经典型ALS（61.4岁，p<0.0001）低10岁；各年龄组的性别比与其他表型有显著差异。UMN-D中下运动神经元体征的扩散模式以上肢肌肉早期受累和呼吸肌晚期受损为特征。UMN-D组的疾病持续时间（56个月）比经典型ALS（33个月，p<0.001）长。UMN-D表型是长期生存的一个强有力的独立预测因素。总之，UMN-D ALS在发病年龄、性别比、扩散模式和预后方面与其他ALS类型存在显著差异，很可能反映了生物学差异。
