Neurofilaments light chains as a diagnostic and predictive biomarker for Tunisian Multiple Sclerosis patients.

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.

Environmental factors related to multiple sclerosis progression.

Multiple Sclerosis (MS) is a complex neurological disease which prevalence is increasing worldwide. The impact of environmental factors on MS susceptibility has already been defined and highlighted in many previous reports, particularly vitamin D or ultraviolet B light exposure, Epstein-Barr virus (EBV) infection, obesity, and smoking. There is increasing evidence that environmental and lifestyle factors are not only important in triggering MS but are also implicated in MS progression.

Clinical and molecular predictors of survival among atypical parkinsonian syndromes in a North African tertiary referral center.

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.

The Impact of LRRK2 G2019S on Parkinson's Disease: Clinical Phenotype and Treatment in Tunisian Patients.

Objective: LRRK2-G2019S is the most frequent mutation in North African Parkinson's disease (PD) patients. Data on its impact on disease progression and treatment response remain elusive. Therefore, we investigated the clinical features, treatments, and complications of PD in Tunisian patients according to their LRRK2-G2019S profile.

Psychiatric disturbances in idiopathic epilepsy.

Introduction: The relationship between epilepsy and psychiatric disorders has been highlighted for a long time. Idiopathic epilepsy is known to have a benign course in most cases. However, the association of psychiatric disturbances could worsen the disease outcome.

Genotype-phenotype correlation in Tunisian patients with Amyotrophic Lateral Sclerosis.

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease. To date, mutations in more than 30 genes have been linked to familial ALS forms. However, no mutational screenings have been reported in African populations so far.

Recurrent painful ophthalmoplegic neuropathy revealing oculomotor nerve schwannoma.

Painful ophthalmoplegia is a common presenting symptom in neuro-ophthalmology emergencies. We report an unusual case of a recurrent painful ophthalmoplegia due to a third nerve schwannoma mimicking « ophthalmoplegic migraine ». A 18 year-old girl had presented 4 episodes of left eye painful ophthalmoplegia respectively in 8, 13, 16 and 17 years old.

Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.

Unverricht-Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (CSTB) gene. We report a clinical and molecular study of a Tunisian ULD family with five affected members presenting with a juvenile myoclonic epilepsy (JME)-like phenotype. The expansion of dodecamers was detected by a deamination/PCR assay.

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.

Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors. Since few mutations were identified in rare families with autosomal dominant GGE, a polygenic inheritance was suspected in most patients. Recent studies on large American or European cohorts of sporadic cases showed that susceptibility genes were numerous although their variants were rare, making their identification difficult.

Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease.

Objective: Rare variants in the TREM2 gene have been reported to significantly increase the risk of Alzheimer's disease in Caucasian populations. Hitherto, this association was not studied in North African populations. In this work, we aimed to study the association between TREM2 exon 2 variants and the risk of late-onset Alzheimer's disease (LOAD) in a Tunisian population.

Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.

Background: In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients and their family caregivers for better management of their life according to disease's evolution.

Methods: In our study, a genetic PD's diagnosis tool was developed for large scale genotyping using Kompetitive Allele Specific PCR (KASP) technology.

[The arteriovenous fistula is an additional risk factor for developing carpal tunnel syndrome in hemodialysis patients].

Introduction: Carpal tunnel syndrome (CTS) is the most frequent entrapment neuropathy reported in patients with renal failure undergoing periodic haemodialysis. The role of arteriovenous fistula was discussed. The aim of this study was to investigate this relationship.