title: Differential motor neuron impairment and axonal regeneration in sporadic and familiar amyotrophic lateral sclerosis with SOD-1 mutations: lessons from neurophysiology.
abstract: Amyotrophic Lateral Sclerosis (ALS) is a degenerative disorder of the motor system. About 10% of cases are familial and 20% of these families have point mutations in the Cu/Zn superoxide dismutase 1 (SOD-1) gene. SOD-1 catalyses the superoxide radical (O(-2)) into hydrogen peroxide and molecular oxygen. The clinical neurophysiology in ALS plays a fundamental role in differential diagnosis between the familial and sporadic forms and in the assessment of its severity and progression. Sixty ALS patients (34 males; 26 females) were enrolled in the study and examined basally (T0) and every 4 months (T1, T2, and T3). Fifteen of these patients are SOD-1 symptomatic mutation carriers (nine males, six females). We used Macro-EMG and Motor Unit Number Estimation (MUNE) in order to evaluate the neuronal loss and the re-innervation process at the onset of disease and during follow-up period.
  
  
  CONCLUSIONS
  SOD-1 mutation carriers have a higher number of motor units at the moment of diagnosis when compared with the sporadic form, despite a more dramatic drop in later stages. Moreover, in familiar SOD-1 ALS there is not a specific time interval in which the axonal regeneration can balance the neuronal damage. Taken together, these results strengthen the idea of a different pathogenetic mechanism at the base of sALS and fALS.
authors.affiliation: Unit of Neurology, Department of Neuroscience, Pisa University Medical School, Pisa 56126, Italy. tommaso.bocci@live.it
authors.forename: Tommaso
authors.initials: T
authors.lastname: Bocci
authors.forename: Chiara
authors.initials: C
authors.lastname: Pecori
authors.forename: Elisa
authors.initials: E
authors.lastname: Giorli
authors.forename: Lucia
authors.initials: L
authors.lastname: Briscese
authors.forename: Silvia
authors.initials: S
authors.lastname: Tognazzi
authors.forename: Matteo
authors.initials: M
authors.lastname: Caleo
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Sartucci
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D001369:Axons / Q000502:physiology*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology*; D009154:Mutation; D009416:Nerve Regeneration; D011999:Recruitment, Neurophysiological; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1