Background and objectivesProgressive myoclonic epilepsy (PME) is a group of neurological disorders characterized by recurrent myoclonic seizures with progressive neurological deterioration. We investigated the genetics of three unrelated patients with PME from Mali, a country in sub-Saharan Africa highly underrepresented in genetic and genomic research.MethodsParticipants were carefully examined and phenotyped. DNA was obtained for genetic analysis including whole exome sequencing (WES). In silico prediction tools and ACMG criteria were used to assess the deleteriousness of putative candidate variants.ResultsPedigree analysis suggests autosomal recessive inheritance patterns for one family and sporadic forms of PME for the two other cases. WES identified novel homozygous missense variants in all the three patients, one each for NHLRC1, EPM2A, and NEU1. The sequence variants segregated with PME in each family and in silico studies including protein 3D structures, CADD scores and ACMG criteria suggested that they were damaging.DiscussionPME is a group of clinically heterogeneous neurological disorders. Most reported cases in the literature are from European background with only a few cases described in North Africa. We report here novel pathogenic variants in three different genes causing PME phenotypes in three unrelated Malian patients, suggesting that genetic studies of underrepresented populations may expand the genetic epidemiology of PME. These findings also emphasize the need for inclusive genetic research to ensure a more targeted diagnostic and therapeutic approaches for diverse patient populations.

The SCA3 is an autosomal dominant heterogeneous neurodegenerative disorder characterized with gait ataxia, dysarthria and parkinsonism. Is the most common SCA worldwide, however only few cases were reported in Africa. To clinically characterize families with SCA3 and identify the underlying genetic defect. Patients with ataxia were examined in our Neurogenetics Clinic. DNA was collected from probands for genetic analysis. Brain imaging and blood chemistries were performed to exclude common causes. 287 families with a wide range of neurodegenerative were enrolled, and 177 patients presented with autosomal dominant ataxia. The gene panel testing showed CAG repeats in the ATXN3 gene in 4 probands. The mean age of onset was 29 years ranging from 10 to 59, anticipation has been noted in all families. The mean age at diagnosis was 43 years. For the genetic testing the average of CAG was 73 repeats, the four probands had cerebellar atrophy on the brain imaging. We found a positive correlation between age of onset and CAG repeat numbers. Studying families with high number of affected sibs will allow refine or consolidate the natural history of these diseases. The haplotype studies may establish the origin of these mutations. We identified a penetrance in the different families, a very few cases (2) of non-penetrance are known, the MJD is considered fully penetrant. We identified three families with SCA3; confirming that this disease is not uncommon in sub-Saharan Africa. Studying families with high number of affected sibs will allow refine or consolidate the natural history of these diseases. This study was funded by the NIH through H3Africa project. There was no conflict of interest in this study.

BACKGROUND Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by mutation in the HTT gene and characterized by involuntary movements as well as cognitive and behavioral impairment. Since its first description 150 years ago, studies have been reported worldwide. However, genetically confirmed cases have been scarce in Africa. OBJECTIVE To describe the clinical and genetic aspects of HD in the Malian population. METHODS Patients with HD phenotype and their relatives were enrolled after obtaining consent. Symptoms were assessed using the Total Motor Scale (TMS) of the United Huntington's Disease Rating Scale (UHDRS) and the Mini-Mental State Examination (MMSE). Brain imaging and blood tests were performed to exclude other causes. DNA was extracted for HTT sequencing. RESULTS Eighteen patients (13 families) with a HD phenotype were evaluated. A familial history of the disease was found in 84.6% with 55.5% of maternal transmission. The average length of the HTT CAG repeat was 43.6±11.5 (39-56) CAGs. The mean age at onset was 43.1±9.7years. Choreic movements were the predominant symptoms (100% of the cases) with an average TMS of 49.4±30.8, followed by cognitive impairment (average MMSE score: 23.0±12.0) and psychiatric symptoms with 22.2% and 44.4%, respectively. CONCLUSION This is one of the largest HD cohorts reported in Africa. Increasing access to genetic testing could uncover many other HD cases and disease-modifying genetic variants. Future haplotype and psychosocial studies may inform the origin of the Malian mutation and the impact of the disease on patients and their relatives.

RESUME Introduction. La maladie de Parkinson idiopathique (MPi) est une atteinte neurodegenerative caracterise par la triade classique faite de tremblement, rigidite, akinesie et des symptomes non moteurs. L’evolution se caracterise par la multiplication des symptomes progressant constamment vers une invalidite. Le but du travail est d’etablir sa frequence et de decrire sa presentation clinique a Bamako Materiels et methodes. C’est une etude epidemiologique prospective et transversale visant a evaluer la prevalence hospitaliere de la maladie de Parkinson idiopathique et decrire ses signes moteurs et non moteurs dans le Service de Neurologie du CHU Point G de Bamako. Ont ete inclus dans l’etude tous les patients atteints de MPi admis dans le Service de Neurologie du CHU du Point G. L’analyse statistique a ete realisee en utilisant le logiciel SPSS Version 22.0. Resultats. Nous avons eu une prevalence 1,15%. Le sexe masculin dominait avec 63,5% contre 36,5% de femmes. L’âge moyen de debut des symptomes moteurs etait de 63,2 ans. Une notion d’histoire familiale de la MPi a ete retrouvee chez 7,3% des patients. La forme mixte de la MPi etait la plus frequente (40,6%). La depression a ete retrouvee chez 18,8% des patients. L’evolution etait stable dans 43,8% des cas, mais il y a eu une aggravation rapide dans 26% des cas. Conclusion. La MPi est une plutot rare au Mali en pratique hospitaliere. Elle affecte surtout les hommes de plus de 60 ans. La forme clinique la plus frequente est la forme mixte. Une deterioration clinique rapide est constatee chez environ un quart des patients. ABSTRACTIntroduction. La maladie de Parkinson idiopathique (MPi) est une atteinte neurodegenerative caracterise par la triade classique faite de tremblement, rigidite, akinesie et des symptomes non moteurs. L’evolution se caracterise par la multiplication des symptomes progressant constamment vers une invalidite. Le but du travail est d’etablir sa frequence et de decrire sa presentation clinique a Bamako Materiels et methodes. C’est une etude epidemiologique prospective et transversale visant a evaluer la prevalence hospitaliere de la maladie de Parkinson idiopathique et decrire ses signes moteurs et non moteurs dans le Service de Neurologie du CHU Point G de Bamako. Ont ete inclus dans l’etude tous les patients atteints de MPi admis dans le Service de Neurologie du CHU du Point G. L’analyse statistique a ete realisee en utilisant le logiciel SPSS Version 22.0. Resultats. Nous avons eu une prevalence 1,15%. Le sexe masculin dominait avec 63,5% contre 36,5% de femmes. L’âge moyen de debut des symptomes moteurs etait de 63,2 ans. Une notion d’histoire familiale de la MPi a ete retrouvee chez 7,3% des patients. La forme mixte de la MPi etait la plus frequente (40,6%). La depression a ete retrouvee chez 18,8% des patients. L’evolution etait stable dans 43,8% des cas, mais il y a eu une aggravation rapide dans 26% des cas. Conclusion. La MPi est une plutot rare au Mali en pratique hospitaliere. Elle affecte surtout les hommes de plus de 60 ans. La forme clinique la plus frequente est la forme mixte. Une deterioration clinique rapide est constatee chez environ un quart des patients.

The burden of Parkinson's disease (PD) is becoming increasingly important in the context of an aging African population. Although PD has been extensively investigated with respect to its environmental and genetic etiology in various populations across the globe, studies on the African continent remain limited. In this Perspective article, we review some of the obstacles that are limiting research and creating barriers for future studies. We summarize what research is being done in four sub-Saharan countries and what the key elements are that are needed to take research to the next level. We note that there is large variation in neurological and genetic research capacity across the continent, and many opportunities for unexplored areas in African PD research. Only a handful of countries possess appropriate infrastructure and personnel, whereas the majority have yet to develop such capacity. Resource-constrained environments strongly determines the possibilities of performing research locally, and unidirectional export of biological samples and genetic data remains a concern. Local-regional partnerships, in collaboration with global PD consortia, should form an ethically appropriate solution, which will lead to a reduction in inequality and promote capacity building on the African continent.

Introduction Dementia is a real fact in the course of Human Immunodeficiency Virus infection. In Mali, no specific studies have been done to estimate its frequency. The objective of this study is -to evaluate the frequency of Human Immunodeficiency Virus associated dementia at the university hospital of Point G -to assess the clinical profile and the risk factors of Human Immunodeficiency Virus associated dementia at the university hospital of Point G Methods It is a prospective study design extended from July 2009 to August 2010. 113 Human Immunodeficiency Virus positive patients aged 16 years old and plus have been recruited from the department of neurology, the infectious disease department and the emergency department at the university hospital of Point G. Data was collected using clinical evaluation reporting forms. Patients were interviewed and evaluated using the international HIV dementia scale. The international HIV dementia scale total score is 12. A score less or equal to 10 is considered to be abnormal and may indicate HIV associated dementia. Results Using the International HIV Dementia Scale, we found a significant frequency of dementia; 69.9%. Advanced clinical state, low CD4 count, AIDS stage, low level of education and the decline of the activity of daily life, were the risk factors significantly associated with Human Immunodeficiency Virus dementia. Conclusion The International Human Immunodeficiency Virus Dementia Scale is a screening toll for dementia in HIV-infected patient. 69.9% of the HIH positive patients were demented with a score less or equal to 10. Its adaptation is socio-culturally convenient in Mali

Global Heart is the official and primary publication of the World Heart Federation, offering a platform for the dissemination of knowledge on research, developments, trends, solutions and public health programmes in the area of cardiovascular disease. Global Heart welcomes research results, points of view and educational material on the prevention, treatment and control of cardiovascular disease with a special focus on low and middle-income countries which are facing the brunt of epidemiological transition.Global Heart strongly encourages authors to adhere to CONSORT, STROBE, STARD, and PRISMA guidelines for reporting of clinical trials, observational studies, diagnostic test accuracy papers, and systematic reviews or meta-analyses. Authors are required for submission to download and complete the appropriate Equator Network checklist: http://www.equator-network.org/.

•Dubois' 5WT is influenced by culture and the socio-educative level in French.•Modified 5WT according to local socio-cultural realities improves performances.•Our modified 5WT could be used in other countries to better diagnose AD.•Future studies including patients and normal controls will elucidate our hypothesis.

INTRODUCTION:Despite significant progress in the field of scientific research on Parkinson's disease (PD), the prevalence and pathophysiology of its non-motor signs remains less understood than the classic motor signs of bradykinesia, rigidity, tremor and postural instability. Data covering this topic are rare in Africa, and almost non-existent in sub-Saharan Africa. Thus, this study aims to highlight the frequency of certain non-motor signs in PD patients followed in the Department of Neurology of the University Hospital Point "G", Bamako, Mali.METHODOLOGY:This is a retrospective and descriptive study from January 2012 to November 2013. We identified records of patients with dopamine-responsive idiopathic Parkinson's disease, and quantified associated non-motor symptoms. Data were analyzed with Epi-Info 2000 version 3.5.5.RESULT:During this period we reviewed 60 patient charts of which 68.3% were men. The average age of patients was 66.51 ranging from 25 to 94 years.Non-motor symptoms were present in 90% of cases, including sensitive disorders in 76.7%, dysautonomia in 73.3%, and psycho-behavioral disorders, including sleep disorders, in 81.7%.CONCLUSION:At the end of this study, we observed an important place for non-motor signs in the clinical manifestation of PD patients in general.