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. Results and Discussion: 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.
Differential motor neuron impairment and axonal regeneration in sporadic and familiar amyotrophic Lateral Sclerosis with SOD-1 mutations: Lessons from neurophysiology / T. Bocci, C. Pecori, E. Giorli, L. Briscese, S. Tognazzi, M. Caleo, F. Sartucci. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 12:12(2011 Dec 11), pp. 9203-9215.
|Titolo:||Differential motor neuron impairment and axonal regeneration in sporadic and familiar amyotrophic Lateral Sclerosis with SOD-1 mutations: Lessons from neurophysiology|
|Parole Chiave:||Amyotrophic Lateral Sclerosis; SOD-1 carriers; macro-EMG; MUNE|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||11-dic-2011|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3390/ijms12129203|
|Appare nelle tipologie:||01 - Articolo su periodico|