We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study.
- Authors
Battistini, Stefania; Giannini, Fabio; Greco, Giuseppe; Bibbò, Giuseppe; Ferrera, Loreta; Marini, Valeria; Causarano, Renzo; Casula, Michela; Lando, Giuliana; Patrosso, Maria Cristina; Caponnetto, Claudia; Origone, Paola; Marocchi, Alessandro; Del Corona, Alberto; Siciliano, Gabriele; Carrera, Paola; Mascia, Vincenzo; Giagheddu, Marcello; Carcassi, Carlo; Orrù, Sandro; Garrè, Cecilia; Penco, Silvana
- Abstract
Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron diseases, is characterized by a progressive neurodegenerative process involving motor neurons in the motor cortex, brain stem and spinal cord. Sporadic (SALS) accounts for the majority of patients but in about 10% of ALS cases the disease is inherited (FALS), usually as an autosomal dominant trait. In the present study we show the results of a referred based multicenter study on the distribution of SOD1 gene mutations in the largest cohort of Italian ALS patients described so far. Two hundred and sixty-four patients (39 FALS and 225 SALS) of Italian origin were studied. In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype. In addition, in one SALS patient a previously reported synonymous variant S59S was identified. In 17 (3 FALS and 14 SALS) out of 264 patients (6.4 %) the polymorphism A-->C at position 34 of intron 3 (IVS3: + 34 A-->C) was found, and in one FALS patient a novel variant IVS3 + 62 T-->C was identified. The frequency of SOD1 gene mutations (17.9 %) in FALS cases was comparable with that found in other surveys with a similar sample size of ALS cases. No SOD1 gene mutations have been identified in SALS cases. Within FALS cases, The most frequent mutation was the G41S identified in four FALS.
- Publication
Journal of neurology, 2005, Vol 252, Issue 7, p782
- ISSN
0340-5354
- Publication type
Journal Article
- DOI
10.1007/s00415-005-0742-y