Publications by authors named "I Ben Sghaier"
Amyotrophic Lateral Sclerosis(ALS) has traditionally been managed as a neuromuscular disorder. However, recent evidence suggests involvement of non-motor domains. This study aims to evaluate the impact of APOE and MAPT genotypes on the cognitive features of ALS.
View Article and Find Full Text PDFAssociation of Amyotrophic Lateral Sclerosis and Dopa-responsive dystonia in a Tunisian patient.
Parkinsonism Relat Disord
January 2025
Article Synopsis
- - Dopa-responsive dystonia (DRD) is a genetic disorder characterized by symptoms similar to Parkinson's disease and dystonia, caused by changes in the GCH1 gene affecting dopamine production.
- - This case report is unique as it connects childhood-onset DRD with amyotrophic lateral sclerosis (ALS), indicating a potential link between these two conditions.
- - The findings suggest that the diverse genetic backgrounds in the North African population might play a role in the occurrence of multiple related disorders.
Background: Multiple Sclerosis (MS) course was shown to be more severe among North Africans compared to Caucasians. Validation of prognostic biomarkers of disease activity and severity is a priority in our practice.
Objective: We aimed to investigate the association between baseline cerebrospinal fluid (CSF) and serum NfL (sNFL) levels and disease activity and disability accrual in a cohort of Tunisian patients with MS.
Introduction: Atypical Parkinsonian Syndromes(APS) are challenging neurodegenerative disorders due to their heterogeneous phenotypic overlaps.So far,there are no validated biomarkers that can accurately predict disease progression,and survival studies were highly different and contradictory.
Aim: To investigate clinical and molecular survival factors among Tunisian APS patients.
Purpose: Breast cancer (BC) is the most recognized malignancy in females globally and is heterogeneous in its clinical manifestation, among which the triple-negative (TNBC) subtype is the most aggressive. This study examines the associations between IL-1β polymorphisms and BC and TNBC susceptibility.
Methods: Genotyping ofIL-1βrs1143627, rs1799916, and rs16944 polymorphisms was done in 488 women with BC (130 TNBC, 358 non-TNBC) and 476 cancer-free control women using real-time PCR genotyping.