Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology

International Journal of Molecular Sciences

Tommaso Bocci¹  Chiara Pecori¹  Elisa Giorli¹  Lucia Briscese¹  Silvia Tognazzi¹  Matteo Caleo² 

[1] Unit of Neurology, Department of Neuroscience, Pisa University Medical School, Pisa 56126, Italy; E-Mails:;CNR Neuroscience Institute, Pisa 56124, Italy; E-Mail:

关键词: Amyotrophic Lateral Sclerosis;    SOD-1 carriers;    macro-EMG;    MUNE;   

DOI  :  10.3390/ijms12129203

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2011 by the authors; licensee MDPI, Basel, Switzerland.