Related Experiment Video
Updated: Jul 20, 2026

Lumbar Intrathecal Injection of SOD1-ASOs for Precise CNS Targeting and Predictive Efficacy in Human SOD1-G93A ALS Mice
Published on: February 24, 2026
SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
L Corrado1, S D'Alfonso, L Bergamaschi
1Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy. lucia.corrado@med.unipmn.it
Abstract:
Mutations in the SOD1 gene exons and exon/intron boundaries were searched in 66 sporadic and 4 familial Italian ALS cases consecutively referred to our centre from different Italian regions. A mutation was found in three sporadic cases (4.5%): a new nonsense mutation in exon 5 (K136X) in a patient with a rapid and severe disease course and two previously described missense nucleotide substitutions (N65S and A95T) in two patients with a mild disease course. Comparison of the clinical characteristics with previously reported patients carrying the same or similar mutations showed a remarkable genotype-phenotype correlation. No association was found with intronic sequence variations by comparing their frequency in the patients and in 181 matched controls.
Related Concept Videos
Huntington Disease l: Introduction
Alzheimer Disease l: Introduction
Alzheimer Disease ll: Pathophysiology
Alternative RNA Splicing
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Parkinson Disease ll: Pathophysiology
Alterations in Muscle Tone lll

