Next Article in Journal
Hormonal Influence on Coenzyme Q10 Levels in Blood Plasma
Next Article in Special Issue
Fragment C of Tetanus Toxin: New Insights into Its Neuronal Signaling Pathway
Previous Article in Journal
Wild and Hatchery Populations of Korean Starry Flounder (Platichthys stellatus) Compared Using Microsatellite DNA Markers
Previous Article in Special Issue
Molecular Motor Proteins and Amyotrophic Lateral Sclerosis
Article Menu

Export Article

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

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

Unit of Neurology, Department of Neuroscience, Pisa University Medical School, Pisa 56126, Italy
Department of Neuroscience, Neurology and Clinical Neurophysiology Section, University of Siena, Siena 53100, Italy
CNR Neuroscience Institute, Pisa 56124, Italy
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 / Revised: 11 November 2011 / Accepted: 29 November 2011 / Published: 9 December 2011
(This article belongs to the Special Issue Studies of Motor Molecules)
View Full-Text   |   Download PDF [147 KB, uploaded 19 June 2014]   |  


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. View Full-Text
Keywords: Amyotrophic Lateral Sclerosis; SOD-1 carriers; macro-EMG; MUNE Amyotrophic Lateral Sclerosis; SOD-1 carriers; macro-EMG; MUNE

This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

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.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top