Association between Alzheimer disease and the -491T allele of regulatory region polymorphism of Apolipoprotein E in a Tunisian population.

The apolipoprotein E (APOE) is a well-established risk factor for late-onset Alzheimer's disease (AD). Several studies have attempted to confirm the association between the polymorphism located at position -491 in the transcriptional regulatory region of the APOE gene and AD. We examined in 85 AD patients and 90 control subjects of a Tunisian population the potential involvement of this polymorphism as a risk factor for AD, either through an independent effect or through interaction with the existing APOE ε4 allele risk.

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family.

Background: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. The aim of our study was to identify the responsible locus for GEFS+ syndrome in a consanguineous Tunisian family showing three affected members, by carrying out a genome-wide single nucleotide polymorphisms (SNPs) genotyping followed by a whole-exome sequencing. We hypothesized an autosomal recessive (AR) mode of inheritance.

No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a Tunisian population.

We examined the potential involvement of the polymorphism in intron 8 of the presenilin-1 (PSEN1) gene as a risk factor for Alzheimer disease (AD), both through independent effect and interaction with the apolipoprotein E (APOE) ε4 allele risk, in 85 patients and 90 controls. We found no significant differences in the distribution of PSEN1 genotype and allele frequency between both groups; and post stratification distribution with APOE ε4 allele. Age of onset suggests that this polymorphism influences AD progression.

[Pathophysiology of complex regional pain syndrome (CRPS) type 1].

Background: If the pathophysiology of complex regional pain syndrome (CRPS) type 1 remains controversial, most authors agree on a combination in varying proportions, a sensitization of peripheral nerves.

Aim: To describe the state of advances in the physiopathology of complex regional pain syndrome type 1.

Methods: Bibliographic research and literature review performed by referring to databases (Medline, Science Direct)

Results: The physiopathology of complex regional pain syndrome type 1 remains still poorly understood and controversial.

[Carpal tunnel syndrome. A Tunisian series].

Background: Carpal tunnel syndrome (CTS) is the most frequent ductal syndrome. Few epidemiological studies in Tunisia exist.

Aim: To describe clinical, biological and electromyographic data of Tunisian patients with CTS METHODS: A retrospective study including 80 patients with CTS, during the period going from 2009 to 2010.

Association of amyotrophic lateral sclerosis and Behcet's disease: is there a relationship? A multi-national case series.

Neurological involvement may be seen in 5-30% of the patients with Behcet's disease (BD). Occasionally, parenchymal neurological involvement in BD can present as a spinal cord syndrome. However, motor neuron disease-like presentation is extremely uncommon.

High APOE epsilon 4 allele frequencies associated with Alzheimer disease in a Tunisian population.

The goal of the study was to examine the Apolipoprotein E (APOE) genotypes in a Tunisian sample of patients with Alzheimer disease (AD) and normal controls, and to compare the results with the findings from the literature. A hospital-based case-control study of two groups (58 patients with AD, 71 controls) was conducted. Patients received a detailed clinical history, neurological examination, neuropsychological testing and brain imaging.

Systemic lupus erythematosus induced by interferon β1 therapy in a patient with multiple sclerosis.

Drug-induced lupus erythematosus is defined as a lupus-like syndrome temporally related to a drug exposure. We report a 34-year-old woman with multiple sclerosis who developed, while being treated with interferon β-1a, myalgia and associated with wrist synovitis. Clinical and immunologic investigations were in favor of systemic lupus erythematosus.

Obsessive-compulsive disorder: a new risk factor for Alzheimer disease?

We describe a case of a 75-year-old woman referred to the Memory Clinic of the neurological Department of Charles Nicolle Hospital, Tunis, for cognitive decline and behavioral disturbances. Her past medical history was marked by severe obsessive-compulsive disorder (OCD) with contamination obsessions and washing compulsions. She has a family history for OCD and/or of dementia in 15 members.

Childhood occipital epilepsy of Gastaut: a case report.

Background: Idiopathic childhood occipital epilepsy of Gastaut is a rare but well defined syndrome within the group of idiopathic focal epilepsies in childhood. Clinical manifestations are characterized by simple partial seizures with mainly visual symptoms followed by secondary generalization.

Aim: Report of a case of Childhood Occipital Epilepsy.

Epilepsy surgery program in Tunisia: an example of a Tunisian French collaboration.

Objective: To describe the first Tunisian epilepsy surgery program establishment and to emphasize on its originality that is an exchange and surgery decision taken by two Mediterranean neurophysiological teams, via the Internet.

Methods: Patients with mesial temporal lobe epilepsy (MTLE) and refractory to antiepileptic drugs were included. A noninvasive protocol evaluation including a detailed history, neurological evaluation, brain imaging, scalp video-EEG monitoring and neuropsychological evaluation were performed.

[Particularities of epileptic women's care].

Aim: Development on the epileptic women's care.

Method: A research in the medical literature on PubMed and an exhaustive review of the published summaries and reports of Epileptology International Meetings, in the last five years. We included cohort studies, reviews and randomized double blinded therapeutic trials.

[Epilepsy progress in the dawn of the 21st century].

Aim: Review of development on recent acquisitions in Epileptology.

Methods: A research in the medical literature on PubMed and an exhaustive review of the Published summaries and reports of Epileptology International Meetings, in the last five years. We included cohort studies, reviews and randomized double blinded therapeutic trials publications related to the pathogenic, diagnostic and therapeutic advances.

[Neurovascular progress in the dawn of the 21st century].

Aim/background: Development on progress in cerebral vascular pathology.

Method: Research on PubMed concerning advances on Neurovascular diseases during the last twenty years.

Results: Stroke incidence and prevalence have shown an increase for a few years.

Death in Unverricht-Lundborg disease.

The objective of this study is to report cases of unexpected deaths in Unverricht-Lundborg disease (ULD) patients, a comparatively benign form of progressive myoclonus epilepsy. We performed a multicentric study of the circumstances of death in ULD patients seen in the last 16 years. We assessed age, sex, severity and duration of disease, antiepileptic drugs, circumstances and presumed cause of death.

[Progress in child epilepsy].

Child epilepsy continues to concern the researchers and the clinicians and carried out these last years of important progress as well in the genetic field, as in physiopathology, clinic and therapeutic one. The identification of new genes of epilepsy, epilepsies related to channelopathy and new phenotypes related to precise genetic mutations, constitutes a major progress of paediatric epilepsy. The debate around the role of febrile convulsions in the development of hippocampal sclerosis is started again thanks to Diffusion MRI techniques.

Epilepsy surgery program in Tunisia, the Charles Nicolle Hospital experience.

Background: Epilepsy surgery is the best treatment in case of intractable epilepsy. However, it is underused in developing countries, creating an enormous treatment gap. On 2006, an epilepsy surgery program was set up in the Neurological Department of Charles Nicolle Hospital, Tunis, Tunisia.

[Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases].

This is a retrospective study about 49 cases of xeroderma pigmentosum (XP). The goal was to determine the clinical features of XP in Tunisia. Our study revealed the predominance of a moderate form.

[Pseudo-polymyositic aspect of amyotrophic lateral sclerosis].

The causes of skeletal muscle weakness are multiple and their diagnosis is difficult, particularly in atypical myopathy. We report the observation of 58-old woman, who presents a muscle weakness of lower limbs with elevation of muscle's enzymes. These symptoms were bound initially to polymyosistis.

Health-related quality of life of people with epilepsy compared with a general reference population: a Tunisian study.

Purpose: The goal of the study was to assess the health-related quality of life (HRQOL) of persons with epilepsy (PWE) by using the short form survey 36 (SF-36), to compare it with that of a control group and to detect factors influencing it.

Methods: We collected clinical and demographic data and information on health status by using the Arabic translation of the SF-36 questionnaire from two groups: (a) 120 PWE consulting our outpatient clinic during a period of 4 months, and (b) 110 Tunisian citizens, representative of the Tunisian general population, as a control group.

Results: The mean age of PWE group was 32.

[Mesial temporal lobe epilepsy. Nine case reports].

Introduction: Mesiotemporal epilepsy (MTLE) is a clinical syndrome characterised by the association of a history of febrile seizures, a homogenous clinical presentation of seizures, temporal interictal and ictal EEG recordings and an underlying pathology that is mesial sclerosis. MTLE is the most common type of medically intractable partial epilepsy with a drug-resistance in 90% of cases.

Object: The aim of this study is to describe the clinical, EEG and MRI findings of 9 patients with MTLE attending the outpatient clinic of Charles Nicolle Hospital.

[School failure and epilepsy: a case-control study].

School difficulties and educational inadequacy usually correlate with the child's epilepsy. The target of our study is to discover the most precocious possible the epilepsy and to prevent educational failure in the population of children from 6 to 15 years old. We have carried out a retrospective study on 162 children of an educational age.