title: Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS.
abstract: 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.
authors.affiliation: Istituto di Neurologia, Università Cattolica del Sacro, Rome, Italy. msabatelli@rm.unicatt.it
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Marco
authors.initials: M
authors.lastname: Luigetti
authors.forename: Alessandra Del
authors.initials: AD
authors.lastname: Grande
authors.forename: Serena
authors.initials: S
authors.lastname: Lattante
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Marangi
authors.forename: Mauro Lo
authors.initials: ML
authors.lastname: Monaco
authors.forename: Francesca
authors.initials: F
authors.lastname: Madia
authors.forename: Emiliana
authors.initials: E
authors.lastname: Meleo
authors.forename: Giulia
authors.initials: G
authors.lastname: Bisogni
authors.forename: Amelia
authors.initials: A
authors.lastname: Conte
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000145:classification* / Q000473:pathology* / Q000503:physiopathology*; D018450:Disease Progression; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000473:pathology / Q000502:physiology; D010641:Phenotype; D015996:Survival Rate; D055815:Young Adult