Vitamin D receptor gene BsmI (rs1544410) polymorphism: role in multiple sclerosis and genotype-phenotype correlations.

Background: Multiple sclerosis (MS) has a complex pathophysiology which depends on many endogenous and exogenous factors. Vitamin D involvement has been largely studied in MS. The large distribution of the vitamin D receptor (VDR) in different immune cells is suggestive of an immunomodulatory role.

Cognitive impairment in multiple sclerosis: Utility of electroencephalography.

Objective: to evaluate associations between neurocognitive impairment and electroencephalography (EEG) data in Multiple Sclerosis (MS).

Methods: patients aged between 18 and 65 years, diagnosed with MS accordingly to the McDonald 2017 criteria and who were in remission for at least one month were included. Cognitive functions were evaluated by validated neuropsychological tests for Tunisian population.

COVID-19 Infection and Recurrent Stroke in Young Patients With Protein S Deficiency: A Case Report.

Introduction: Protein S deficiency and coronavirus disease 2019 (COVID-19) are rare etiologies of ischemic stroke. We describe a case of an ischemic stroke revealing severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in a patient with a history of protein S deficiency and cerebral imaging suggestive of vasculitis.

Case Report: A 52-year-old woman, with history of protein S deficiency, was admitted for right hemiparesis and aphasia that happened 6 hours before her consultation.

Knowledge and attitudes toward epilepsy among teachers in Tunisia.

Background: The importance of school teachers' knowledge of and attitudes toward epilepsy and its contribution in improving the links between the Education and Health fields, is well recognized and appreciated. In order to clarify the amount of misconceptions about epilepsy among Tunisian teachers, we conducted a web-based survey. The main objectives of our study were, first, to determine the knowledge about and attitudes toward epilepsy, and second, to specify factors associated with a better understanding of this disease.

Utility of EEG on attention deficit-hyperactivity disorder (ADHD).

Objective: The aim of our study was to analyze electrophysiological findings in patient with Attention Deficit Hyperactivity Disorder (ADHD) by electroencephalography (EEG) recording, estimate the prevalence of epilepsy in ADHD population and assess its clinical characteristics.

Methods: We conducted a retrospective and analytic study that concerned children with ADHD, followed for at least two-years in the Tunisian National Center for School and University Medicine (NCSUM). All patients recruited underwent at the diagnosis of ADHD, neurological examination and EEG recording in the department of Neurology of Charles Nicolle Hospital.

Epileptic seizures and occupational exposure to solvents: a cases series.

Introduction: Organic solvents (OS) are substances with well-known nervous system tropism. Long-term exposure can cause several neurological and neuropsychic manifestations (mainly toxic encephalopathy). A potential causal relation between epileptic seizures and exposure to OS remains controversial.

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.

Background: Our aim was to describe the natural history of neuromuscular involvement (NMI) in glycogen storage disease type III (GSDIII).

Methods: We conducted a longitudinal study of 50 Tunisian patients, 9.87 years old in average.

A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.

Background Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of GSDIII in a Tunisian population and to explore factors interfering with its course.

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile epilepsy syndromes.

Gastrointestinal Dysfunction and Neuropathologic Correlations in Parkinson Disease.

Introduction: Recently, an increasing interest to nonmotor symptoms of Parkinson disease (PD) has shown. Gastrointestinal dysfunction is a prominent nonmotor manifestation of PD and precedes motor symptoms for several years. Neuropathologic studies show early accumulation of α-synuclein (α-SYN) in Lewy neurites and Lewy body in the enteric nervous system (ENS) and dorsal motor nucleus of the vagus in PD.

Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).

Several clinical phenotypes were associated with presenilin 1 (PSEN1) mutation in early-onset familial Alzheimer's disease (EOFAD). We report the clinical phenotype of two members of a familial dementia kindred who presented with EOFAD and early psychiatric syndrome as behavioral abnormalities. Sequence analysis of the index patient and his brother's PSEN1 transcript revealed a novel T > C transition in exon 4 which was determined as a missense substitution at position 248 of the coding sequence (cDNA.

Association between ACE polymorphism, cognitive phenotype and APOE E4 allele in a Tunisian population with Alzheimer disease.

Angiotensin-converting enzyme (ACE) has shown altered activity in patients with neurological diseases. An insertion/deletion (I/D) polymorphism of the ACE gene encoding angiotensin-converting enzyme has been reported to be associated with the risk for Alzheimer's disease (AD), and is generally considered to be a disorder primarily affecting memory. We conducted a case-control study in a sample composed of 85 sporadic AD patients and 90 age- and sex-matched controls to investigate the possible effect of the polymorphism and cognitive profile.

Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease.

A minority of Alzheimer disease (AD) patients begin presenting symptoms before the age of 65 years. A familial aggregation is often found in this group of early-onset AD, and, in a subset of families, the pattern of inheritance is consistent with autosomal dominant inheritance. Fully penetrant variants in amyloid precursor protein, presenilin 1 (PSEN1), and presenilin 2 are the only causative mutations reported for autosomal dominant AD.

Parkinsonism and Sjögren's Syndrome: A Fortuitous Association or a Shared Immunopathogenesis?

Background. The Sjögren Syndrome (SS) can include various manifestations of central nervous system impairment. Extrapyramidal signs are known to be very rare and unusually discovered on early onset in this pathology.

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.

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.