Location of Repository

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

By Tommaso Bocci, Chiara Pecori, Elisa Giorli, Lucia Briscese, Ferdinando Sartucci, Matteo Caleo and Silvia Tognazzi

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. 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

Topics: Amyotrophic Lateral Sclerosis, SOD-1 carriers, macro-EMG, MUNE, Chemistry, QD1-999, Science, Q, DOAJ:Chemistry (General), DOAJ:Chemistry, Biology (General), QH301-705.5
Publisher: MDPI AG
Year: 2011
DOI identifier: 10.3390/ijms12129203
OAI identifier: oai:doaj.org/article:428452113f4f4f3faf72caeaa8467a54
Journal:
Download PDF:
Sorry, we are unable to provide the full text but you may find it at the following location(s):
  • https://doaj.org/toc/1422-0067 (external link)
  • http://www.mdpi.com/1422-0067/... (external link)
  • https://doaj.org/article/42845... (external link)
  • Suggested articles


    To submit an update or takedown request for this paper, please submit an Update/Correction/Removal Request.