R. Gouider

Juvenile and adult-onset ALS/MND among Africans: incidence, phenotype, survival: A review

Abstract Aim: We reviewed the epidemiology of ALS among subjects of African origin, considering incidence, phenotype and prognosis. Methods: We searched Medline, Scopus, Science direct, Bibliothèque Virtuelle de Neurologie Africaine (BVNA), (http://www-ient.unilim.fr/) and African journal OnLine databases using the following search terms “amyotrophic lateral sclerosis (ALS)”, “motor neuron disease (MND)” or “Charcot disease”, in combination with “Africa”, “ethnic groups”, “blacks” or “epidemiology”. Of 1264 references examined, 35 were included in this review. Results and discussion: Among the 35 references, 19 studies were performed in the African continent and dealt with MND/ALS; four other studies focused on ALS-like syndromes; finally, 12 studies were not performed in Africa but focused on either incidence and mortality or survival of ALS in subjects of African origin. Several characteristics of ALS among Africans or subjects of African origin were identified: (i) lower incidence rates among people of African origin living in western countries, (ii) higher incidence of classic ALS among men, (iii) presence of juvenile form, (iv) younger age at onset of classic ALS. We cannot draw firm conclusions about (i) the prognosis in African ALS patients, (ii) prognostic factors, (iii) genetic or behavioral factors affecting incidence or clinical phenotype. Conclusion: Further multicenter prospective studies with homogeneous methodological approaches need to be performed in Africa to clarify the situation.

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

BackgroundIn 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.MethodsIn our study, a genetic PD’s diagnosis tool was developed for large scale genotyping using Kompetitive Allele Specific PCR (KASP) technology. We investigated G2019S’s frequency in 250 Tunisian PD patients and 218 controls.ResultsWe found that 33.6% of patients and 1.3% of controls were carriers. Demographic characteristics of patients with G2019S had no differences compared with non-carrier patients. Thereby, we could emphasize the implication of G2019S in PD without any distinctive demographic factors in the studied cohort. Sixty patients out of 250 were genotyped using Taqman assay and Sanger sequencing. The genotyping results were found to be concordant with KASP assay.ConclusionsThe G2019S mutation frequency in our cohort was similar to that reported in previous studies. Comparing to Taqman assay and Sanger sequencing, KASP was shown to be a reliable, time and cost effective genotyping assay for routine G2019S screening in genetic testing laboratories.

History of African neurology

Background The History of African neurology is not well known. Objective Through this communication, our objective is to shed light on this barely History of African Neurology, which is very exciting, rich and rapidly evolving. Its rapid evolution, over the last fifty years is the result of the evolvement of its youth and its training schools. Patients and Methods / Material and Methods At the very beginning, it was confused with the History of Tropical Neurology, until the awareness, around 1950th, by the first neurologists, true pioneers, who worked in sub-Saharan Africa, that cultural and environmental factors conferred genuine specificity to African neurology. Results Since that time, African neurosciences has been structured and developed, contributing to the birth of Neurological Societies in some African countries, then the Pan African Association of Neurological Sciences (PAANS), continental structure, which was the first major cluster of neurologists and neurosurgeons on the continent. In August 2015, the African Academy of Neurology (AfAN) was set up in Dakar, with the aim of bringing together African Neurologists. This Academy, which was created thanks to the joint will of new pioneers and the World Federation of Neurology (WFN), allowed the recognition of neurology in the African continent, alongside other great regional Academies around the world. Conclusion African neurosciences have emerged from the shadows, allowing, in particular, a deepening of the knowledge in neuroepidemiology and the role of socio-economic, ethnographic and cultural factors.

Preliminary report of Tropals study — A survey of amyotrophic lateral sclerosis in Africa

Background: Epidemiological studies of Amyotrophic Lateral Sclerosis (ALS) in the tropics are rare and their methodologies, heterogeneous. Many questions arise as regards the characteristics of this disease in the tropics, especially in Africa.Objective: Describe sociodemographical and clinical characteristics of ALS patients diagnosed in Africa.Patients and methods/material and methods: TROPALS (http://www.tropals.unilim.fr/) is a multicentre observational cohort study. A shared methodology and an online data base that allows centers to collect data in a standardized and homogeneous way.Results: 40 patients have been included to date in 5 centers (Benin, Mauritania, Senegal, Togo, Tunisia), 3 other centers are open (Burkina Faso, Gabon, Mali) and 6 are about to be open.Mean age at diagnosis was 51.9 ± 13.5 years (2 cases less than 25 years), male/female sex ratio was 2.4.First symptoms were mostly spinal (72.5%) and 80% (n = 32/40) of patients had Electroneuromyography for diagnosis purpose. At this time mean ALS FRS R was 32.1 ± 10.5 and 75% of patients presented atypical symptoms (mostly dysautonomic or sphincter problems).After diagnosis, 97.4% of patients were prescribed an occidental treatment: Rilutek® (n = 12), physiotherapy (n = 17), or symptomatic treatment (n = 12). 21.6% of patients used a “traditional treatment” based on infusion-decoction for 2 of them and of unknown type for 6 patients.Conclusion: More inclusions are needed to produce precise estimations. Follow-up data are currently being collected. Tropals study will allow us to improve the description of ALS characteristic prognosis of patients and comprehension of the disease in this continent.

P - 2 Intérêt de l’étude des mouvements oculaires dans les troubles hyperactifs avec déficit de l’attention

Introduction Le trouble de l’attention avec hyperactivite (THADA) est un trouble frequent en psychiatrie sans marqueur pour la maladie. L’etude des mouvements oculaires pourrait y etre utile en tant que critere diagnostic objectif. Objectifs Etudier l’interet des etudes des mouvements oculaires (MOC) dans le trouble de l’attention avec hyperactivite. Methodes Nous avons mene une etude comparative des mouvements oculaires chez 7 enfants ayant une hyperactivite avec deficit de l’attention confirmee versus 7 enfants sains apparaies avec l’âge et le sexe. 2 paradigmes ont ete etudies les pro-saccades avec un « Overlap condition » et la poursuite. Le test T Student a ete utilise pour l’etude statistique. Resultats Les prosaccades etaient enregistrees dans 5 cas sur 7 chez les patients hyperactifs et dans tous les sujets temoins. Les latences des prosaccades etaient allongees comparativement aux sujets temoin. La moyenne etait de 299 ms + 91 par rapport a 227 ms + 15,8 ; la difference etait statistiquement significative avec un P Discussion La presence d’un allongement des latences des prosaccades a ete retrouvee chez les patients hyperkinetiques avec deficit de l’attention et serait secondaire a un dysfonctionnement prefrontal (Todd et al. 2001, Mostofsky et al. 2001 et Douglas et al. 2003). Conclusion L’etude des MOC est un examen utile chez les THADA. Cet examen montre une alteration significative des latences des prosaccades qui pourrait donc etre un parametre objectif pour le diagnostic positif avec les autres criteres.

B - 2 Somnambulisme familial

Introduction Le somnambulisme est une forme de parasomnie qui constitue un diagnostic differentiel avec l’epilepsie du fait de leurs similarites cliniques. Une predisposition genetique et des formes familiales sont decrites. Objectifs Le but de notre travail est d’insister sur l’importance d’identifier des parasomnies devant des manifestations paroxystiques au cours du sommeil, et de savoir les distinguer cliniquement des crises epileptiques. Methodes Une enquete familiale etait realisee aupres de cas index consultant pour somnambulisme. L’interrogatoire avait identifie des cas similaires et un arbre genealogique etait etabli pour chaque famille. Une etude electroencephalographie etait realisee chez tous les cas index. L’etude genetique est en cours. Resultats Il s’agissait de 4 familles de somnambulisme de transmission autosomique dominante. Au minimum 3 cas similaires existaient dans chaque famille. Le somnambulisme etait souvent associe a une somniloquie. L’âge de debut se situait aux alentours de 3 ans avec une nette diminution des acces vers l’âge de 20 ans. Une epilepsie faite de crises partielles et generalisees de survenue essentiellement nocturnes etait trouvee dans 3 familles. Discussion L’heredite intervient dans la survenue du somnambulisme. Dans 80 p. 100 des cas, les sujets atteints ont au moins un membre de la famille affecte, et les jumeaux monozygotes sont affectes de facon concordante 6 fois plus souvent que les dizygotes. La transmission est essentiellement autosomique dominante. Aucun locus n’a ete identifie pour ce trouble. Son association a une epilepsie est possible. Conclusion La distinction entre parasomnie et epilepsie est essentielle, leur association chez un meme individu est possible. Un mecanisme physiopathologique commun est suggere. Les formes familiales refletent une predisposition genetique.