Int. J. Mol. Sci. 2011, 12(12), 9203-9215; doi:10.3390/ijms12129203
Article

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

1 Unit of Neurology, Department of Neuroscience, Pisa University Medical School, Pisa 56126, Italy 2 Department of Neuroscience, Neurology and Clinical Neurophysiology Section, University of Siena, Siena 53100, Italy 3 CNR Neuroscience Institute, Pisa 56124, Italy 4 Department of Neuroscience, SD of Neurology, Cisanello Hospital, Pisa University Medical School, Pisa 56124, Italy
* Author to whom correspondence should be addressed.
Received: 9 October 2011; in revised form: 11 November 2011 / Accepted: 29 November 2011 / Published: 9 December 2011
(This article belongs to the Special Issue Studies of Motor Molecules)
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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 (O2) 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.
Keywords: Amyotrophic Lateral Sclerosis; SOD-1 carriers; macro-EMG; MUNE

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MDPI and ACS Style

Bocci, T.; Pecori, C.; Giorli, E.; Briscese, L.; Tognazzi, S.; Caleo, M.; Sartucci, F. Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology. Int. J. Mol. Sci. 2011, 12, 9203-9215.

AMA Style

Bocci T, Pecori C, Giorli E, Briscese L, Tognazzi S, Caleo M, Sartucci F. 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. 2011; 12(12):9203-9215.

Chicago/Turabian Style

Bocci, Tommaso; Pecori, Chiara; Giorli, Elisa; Briscese, Lucia; Tognazzi, Silvia; Caleo, Matteo; Sartucci, Ferdinando. 2011. "Differential Motor Neuron Impairment and Axonal Regeneration in Sporadic and Familiar Amyotrophic Lateral Sclerosis with SOD-1 Mutations: Lessons from Neurophysiology." Int. J. Mol. Sci. 12, no. 12: 9203-9215.

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