Abstract Details

Title Screening SOD1Gene Among Tunisian Patients With Amyotrophic Lateral Sclerosis

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P7 - Poster Session 7 (5:30 PM-6:30 PM)

Poster/Presentation
Number 1-005

Objective

To assess and explore the frequency and nature of SOD1 mutations in a large population cohort of Amyotrophic Lateral Sclerosis (ALS) Tunisian patients.

Background Advances in genetics in ALS have permitted to identify genetic causes for ALS such as encoding copper zinc superoxide dismutase (SOD1) which exhibits a founder effect for ALS occurrence. estimation of SOD1 mutation prevalence have not yet been explored in Tunisian population characterized by clinical particularity such as; slower disease progression, high frequency of Juvenile ALS, younger age at onset of Bulbar ALS.

Design/Methods Mutations in the SOD1 gene exons and exon/intron boundaries were searched in 163 ALS patients including 156 sporadic and 6 familial Tunisian ALS cases were studied.Tunisian ALS cases. Genomic DNA was isolated from peripheral blood samples. The five coding exons of SOD1 and at least 30 bp of flanking intronic sequence were PCR-amplified. Each product was sequenced. Sequences were analyzed with Sequencher software. The study was approved by the local ethics committee.

Results

Heterozygous SOD1 mutation (rs2234694) was detected in 11 sporadic ALS patients. We identified, also, a mutation in the third exome rs17885833. Moreover, we found homozygous mutated patient for rs80265967 classified as a pathogenic variant for ALS, and a synonymous mutation in the fifth exome rs143100660 was found. The latter mutation is absent in the African population. Finally new double mutation was detected in familial ALS case and two sporadic patients located in the forth exons/intron region.

Conclusions This study represents the first genetic analysis of one of the major ALS causative gene in Tunisian ALS patients and contributes to the further understanding of the genetic and phenotypic diversity of ALS in African population.

Authors/Disclosures
Imen Kacem, MD (Department of Neurology) PRESENTER	Dr. Kacem has nothing to disclose.
	No disclosure on file
	No disclosure on file
Saloua Mrabet, MD (Razi University Hospital)	Dr. Mrabet has nothing to disclose.
Ben Djebara Mouna	No disclosure on file
	No disclosure on file
	No disclosure on file
Riadh Gouider, MD, F�鶹��ýӳ�� (Erazi Hospital)	Dr. Gouider has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Merck. Dr. Gouider has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Gouider has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Gouider has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sanofi. Dr. Gouider has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Hikma. The institution of Dr. Gouider has received research support from Clinical Investigation Center. The institution of Dr. Gouider has received research support from Menactrims.

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