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Midline essential tremor (Mid-ET) is a distinctive group of essential tremor (ET) in which tremor affects the neck, jaw, tongue, and/or voice. For long, it has been considered as an ultimate stage of the disease and a marker of its severity. However, recent studies pointed its complexity in terms of non-motor presentation. Thus, we aimed to investigate the non-motor signs (NMS) in Mid-ET.We conducted a cross-sectional study in a tertiary neurology referral center including ET patients classified into two groups based on the presence or not of midline tremor (Mid-ET vs. No-Mid-ET). We assessed NMS using the non-motor severity scale (NMSS), a large battery of cognitive tests, clinical and electrophysiological study of the autonomic nervous system along with the evaluation of sleep disturbances.A total of 163 patients were included: Mid-ET (n = 79) and No-Mid-ET (n = 84) matched in gender and age of onset. Mid-ET patients had higher proportion of late-onset ET ( 60 years old, p = 0.002) and more extrapyramidal signs (p = 0.005). For NMS, Mid-ET was marked with cognitive dysfunction (p = 0.008). The hallmarks of the neuropsychiatric profile of Mid-ET were executive dysfunction (p = 0.004), attention problems (p 0.000), episodic memory impairment (p = 0.003), and greater depression (p = 0.010). The presence of RBD was a trait of Mid-ET (p = 0.039). In both Mid-ET and No-Mid-ET phenotypes, clinical and neurophysiological dysautonomia correlated with cognitive dysfunction.Mid-ET patients had greater cognitive dysfunction, depression, RBD, higher proportion of late-onset ET, and more extrapyramidal signs. Taken all together, these findings could provide a redesigned insight into the underlying physiopathology of Mid-ET indicative of a greater cerebellar dysfunction.

In this chapter, we delve into a comprehensive discussion of the complex impact of gamma rays on materials of titanium dioxide (TiO2) and their practical use in photovoltaic contexts. Our goal is to gain a better grasp of the dynamic interplay between gamma irradiation and the performance of TiO2 for better utilization in photocatalysis. We aim to explore how the employment of gamma-treated TiO2 in photovoltaic applications can lead to amplified solar cell effectiveness and endurance. As we strive to enhance sustainable energy initiatives and extend the range of innovative prospects for TiO2 materials, we also scrutinize the fundamental processes that drive these developments. Additionally, we contemplate prospective avenues for research such as identifying optimal gamma-ray parameters, assessing the durability of treated TiO2, and studying the synergistic influence of combining gamma radiation with other treatments. Scientists and industrialists seeking to enrich the performance of TiO2 materials in solar energy endeavors can benefit from this chapter as a valuable reference.

Resume Introduction Le syndrome de dysfonction reactive des bronches (RADS) ou syndrome de Brooks est une entite independante de l’asthme non immunologique definie par des criteres diagnostiques bien precis. L’emergence des produits chimiques irritants dans l’environnement du travail a des repercussions sur l’appareil respiratoire et des consequences sur la vie professionnelle. Objectifs Dresser le profil socio-demographique, professionnel, clinique et paraclinique des patients presentant un RADS. Patients et methodes Enquete descriptive retrospective qui a porte sur les dossiers des sujets presentant un RADS et ayant consulte au service de medecine du travail de Sousse, en vue d’une declaration en accident de travail ou dans le cadre d’une enquete etiologique de leur syndrome, sur une periode de 10 ans. Resultats Nous rapportons les cas de 15 patientes. L’âge moyen etait de 43,13 ± 8 ans. Les 2 principaux secteurs d’activite concernes etaient celui de la sante et du nettoyage. Les agents chimiques responsables du RADS etaient les detergents, les solvants (peinture et colle), les pesticides, les desinfectants (formaldehyde) et les acides forts. Les symptomes ce sont ameliores au bout de 3 mois chez 6 patientes. La symptomatologie se repetait a chaque reexposition a un produit irritant chez 13 patientes. Les explorations fonctionnelles respiratoires ont montre dans la majorite des cas un trouble ventilatoire obstructif reversible. Quatre patientes n’avaient pas necessite un traitement de fond. Six patientes ont beneficie d’une declaration en accident de travail. Conclusion Il est tres important a la fois de reconnaitre et de signaler les accidents d’inhalation sur les lieux de travail pour pouvoir identifier l’agent en cause ainsi que les travailleurs concernes pour leur permettre, le cas echeant, un changement de poste ainsi qu’une mise en œuvre de moyens preventifs adequats.

Few studies have reported abnormal ocular movements in cases of amyotrophic lateral sclerosis (ALS) and their link with other disease features. Our study aimed to describe and analyse eye movement abnormalities in ALS patients. Specifically, we set out to investigate the correlation between non-motor signs and oculomotor impairment in order to understand the pathogenesis of the disease. All ALS patients seen from 2018 to 2020 in the department of Neurology of Razi hospital underwent the recording of saccadic eye movements. Results were compared with healthy controls. Sixty-two patients were included. Altered saccadic eye movements (72.6%) correlated with tongue atrophy and bladder dysfunction. The most common finding was altered smooth pursuit (56.5%), which showed correlation with bladder dysfunction and altered frontal assessment battery (FAB) scores. Prolonged latencies of horizontal saccades (34%) correlated with sensory and extrapyramidal signs. Our study is the first to examine the characteristics of eye movements in a large African cohort of ALS patients and to show correlations with extra-motor clinical signs. Our findings showed extra-motor cortex dysfunction in ALS with greater frequency of eye movement abnormalities in comparison with previous studies. Altered horizontal pursuit, the core abnormality, confirmed the extension of the neurodegenerative process to the frontal and prefrontal cortices. Prolonged horizontal saccade latencies reflect mainly the involvement of the parietal eye field. Anti-saccadic abnormalities were the least common finding and showed, paradoxically, no link with executive dysfunction.

We aimed to assess and compare autonomic function in Parkinson's disease (PD) associated with the leucine-rich repeat kinase (LRRK2) G2019S mutation (LRRK2-PD) and non-LRRK2 PD, by the study of heart rate variability (HRV) and sympathetic skin responses (SSR).In a cross-sectional three-year study, fifty LRRK2-PD and fifty clinically matched non-LRRK2 PD patients were included. Cardiac parasympathetic functions were assessed using heart rate variation to deep breathing (HR-DB), to the Valsalva maneuver (HR-V) and to standing (HR-S) and the sympathetic autonomic system by sympathetic skin responses (SSR).Neurophysiological, parasympathetic and sympathetic dysautonomia were found in 78%, 69% and 37% of all PD patients respectively. Rates of dysautonomia in the LRRK2-PD and non-LRRK2 PD patient subgroups were 76% vs 80% (p = 0.405) for neurophysiological, 62% vs 76% (p = 0.123) for parasympathetic and 38% vs 36% (p = 0.500) for sympathetic dysautonomia. HR-S was the most frequently altered parameter in both groups, and was significantly associated with the tremor-dominant (TD) motor phenotype of PD in the total cohort (p = 0.004) and in LRRK2-PD (p = 0.015). In LRRK2-PD patients, female gender was associated with parasympathetic dysfunction (p = 0.024), and with altered HR-DB (p = 0.022). Early-onset parkinsonism was also significantly associated with preserved neurophysiological autonomic functions (p = 0.044) in LRRK2-PD. In non-LRRK2 PD patients, male gender was associated with early parasympathetic (p = 0.043) and sympathetic dysfunction (p = 0.007).Our study showed a roughly similar neurophysiological autonomic profile in non-LRRK2 PD and LRRK2-PD. The latter had some peculiarities with more marked parasympathetic dysfunction and more altered HR-DB in females, more altered HR-S in the TD-motor phenotype, and preserved autonomic functions in early-onset parkinsonism. These preliminary findings would require further investigations on larger genetically homogeneous cohorts to explore the multiple facets of autonomic dysfunction in PD.

Unverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is usually characterized by the presence of ataxia associated with myoclonus and epileptic seizures without progressive cognitive deficit, presenting during late childhood and early adolescence. Currently, there is a growing body of evidence for atypical presentations of the disease with a milder phenotype or without the full symptomatology. We describe a case report of a late-onset phenotype with progressive myoclonus-ataxia syndrome accompanied by initial recurrent falls, resulting in specific phobia and agoraphobia starting at the age of 50 years old. The examination revealed multifocal myoclonus with cerebellar ataxia and electroencephalogram showed generalized polyspikes and spike-wave discharges. Electromyogram revealed positive myoclonus of 60-ms duration in the face and the presence of C reflex. A genetic study confirmed the diagnosis of ULD in the patient and other additional family members, presenting a wide range of intra-familial variability. We discuss the challenging differential diagnosis for such a misleading presentation and its possible underlying pathophysiological mechanisms. Our case report may contribute to broadening the age and clinical boundaries for this disease and emphasizes the intra-familial age and symptom variability. Based on a suggestive family history, the diagnosis of ULD should be considered in this context, even in older patients.

Aims: The present survey aims to assess the overall mood disorder prevalence and identify associated socio-demographic and clinical factors in a Tunisian community sample, with special attention to the COVID-19 pandemic. Background: Mood disorders are one of the leading causes of all non-fatal burden of disease, with depression being at the top of the list. The COVID-19 pandemic may have increased the prevalence of mood disorders, especially in Low and Middle income countries (LMICs) and in vulnerable populations. Objectives: 1. Assess point and lifetime prevalence of depressive and bipolar disorders as well as subthreshold bipolarity in a representative population sample of La Manouba governorate and assess treatment patterns for these disorders. 2. Study socio-demographic and clinical correlates of mood disorders 3. Assess the association between mood disorders and quality of life 4. Study the impact of the COVID-pandemic on the prevalence of mood disorders 5. Assess coping mechanisms to the COVID-pandemic and whether these mechanisms moderate the appearance of mood disorders or symptoms since the beginning of the pandemic Method: This is a household cross-sectional observational survey to be conducted in La Manouba Governorate in a sample of 4540 randomly selected individuals aged ≥ 15 years. Data collection will be carried out by trained interviewers with clinical experience, through face-to-face interviews and the use of the computer assisted personal interviewing approach (CAPI). The following assessment tools are administered: Result: Structured clinical Interview for DSM IV-TR (Mood disorder section and Screening questions on Anxiety), Mood Disorder Questionnaire (MDQ), Suicide Behaviors Questionnaire-Revised (SBQ), 12-item Short Form Survey (SF-12), the Brief-COPE, and a questionnaire about headache. In addition, socio-demographic and clinical data will be collected. Conclusion: This will be one of the very few household surveys in a general population sample to assess mental health problems and COVID-19 related variables since the beginning of the pandemic. Through this research, we aim to obtain an epidemiological profile of mood disorders in Tunisia, and an estimation of the impact of the COVID-19 pandemic on their prevalence. Results should contribute to improving mental health care in Tunisia.

Summary Peduncular hallucinosis (PH) is a rare neurological disorder, characterized by visual hallucinations, and often associated with sleep and oculomotor disturbances. It is typically due to thalamic and brainstem lesions. We report here the case of a 69-year-old patient, with personal history of depression, diabetes and hypertension, presenting with complex auditory and visual hallucinations associated with insomnia but without oculomotor abnormalities. Brain MRI revealed isolated bilateral symmetric paramedian upper pontine ischemic lesions, which are likely to be the cause of this PH. This case could expand the etiological spectrum of PH, adding bipontine infarction to the list of lesions responsible for this rare condition.

We describe a Tunisian family carrier of the same rare mutation iniTARDBP/ibut developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability. Genetic analysis identifiediTARDBP/ip.G294A mutation among4 members. Additionally, the ALS case was muted iniGBA/i. While the three cases of AD were carriers ofiPRKN/iandiGBA/imutations. Finally, the FTD-parkinsonism patient was mutated foriLRRK2/ip.G2019S that might increase his susceptibility to develop Parkinsonism spectrum. Genetic variants ofiTARDBP/imay influence the clinical manifestation in ALS case.

Background A wide range of neurological manifestations has been described in COVID-19. Methods In this nationwide retrospective observational study, patients in Tunisia diagnosed with COVID-19 between the 2nd of March and the 16th of May 2020 were contacted by telephone. We collected demographic and clinical data and specified characteristics and evolution of main neurological symptoms. Results Of 1034 confirmed COVID-19 patients, 646 were included (mean age 42.17 years old) and 466 (72.1%) had neurological symptoms. Neurological symptoms were isolated 22.7% (n = 106). Headache was the most frequent neurological symptom (n = 279, 41.1%): mainly frontotemporal (n = 143, 51.1%) and mild or moderate (n = 165, 59.1%). When associated with fever (n = 143, 51.3%), headache was more likely to be severe and present at onset. Recovery was reported in 83.2%. Smell and taste impairment were found in 37.9% (n = 245) and 36.8% (n = 238) respectively. Among them, 65.3% (156/239) were anosmic and 63.2% (146/231) were ageusic. A complete improvement was found in 72.1% (174/240) of smell impairment and in 76.8% (179/233) of taste impairment. Myalgia (n = 241, 37.3%) and sleep disturbances (n = 241, 37.3%) were also frequent. Imported cases had more neurological symptoms (p = 0.001). In 14.5%, neurological symptoms preceded the respiratory signs (RS). RS were associated with more frequent (p = 0.006) and numerous (p < 0.001) neurological symptoms. Conclusions Neurological symptoms in COVID-19 are frequent, can be isolated and present at onset. A total recovery is the most recorded outcome. RS are predictive of neurological symptoms. Studies in to virus and host genetics should be considered to understand the different phenotypes.

Aim. To study the influence of season on patch tests results. Methods. We conducted a retrospective epidemiological study which concerned all the patients of the Tunisian center, who consulted in the Dermato-Allergology Unit of Occupational Medicine Department of Farhat Hached University Hospital-Sousse (Tunisia) over a period of 07 years. All the patients were tested by the European Standard Battery allergens (BSE). Results. The data of 1000 patch tests were analyzed during the study period. More than half of the patch tests (58.6%) was positive. In winter, 63% of patch tests showed a positive reaction versus 52% of patch tests in summer without a statistically significant association. However, results of lanolin alcohols, epoxy resin, and Sesquiterpene lactone mix varied significantly with season. Atopy was significantly associated with 18.8% of positive reactions in winter and only with 5.2% of positive reactions in summer ( p = 0.015 ). Conclusion. Seasonal variations in patch tests results were more significant with some allergens of European Standard Battery and in atopic patients.

Resume Objectif Determiner la prevalence du burnout (BO) dans la population des intervenants Samu/Smur tunisiens et identifier les facteurs specifiques associes au BO severe. Methode Une enquete transversale, multicentrique basee sur un auto-questionnaire accompagne de deux echelles pour rechercher les facteurs associes au BO chez les participants (modeles de Karasek et Siegrist) et une echelle specifique du BO (Maslach Burnout Inventory). Cette etude a concerne tout le personnel medical et paramedical âge de plus de 20 ans travaillant dans differentes structures publiques du Samu/Smur. Resultats Notre etude a concerne 129 intervenants Samu/Smur avec un taux de participation egale a 63,2 %. Tous les participants inclus dans l’etude etaient atteints de BO a differents niveaux. Le BO eleve etait statistiquement associe a l’âge Conclusion Nos resultats confirment que les intervenants Samu/Smur presentent une categorie professionnelle a haut risque de developper l’epuisement professionnel. Ainsi, la mise en place d’un programme de prevention, d’information et d’encadrement du personnel s’impose.

Resume La sclerose en plaques est une maladie inflammatoire chronique du systeme nerveux central d’etiologie auto-immune. Son phenotype et son evolution peuvent differer d’un patient a l’autre. L’epidemiologie et la presentation de la sclerose en plaques ont connu des modifications remarquables au cours des dernieres decennies notamment dans les pays du Maghreb. Une augmentation de la prevalence et de l’incidence surtout chez la femme a ete notee. Une severite particuliere de la maladie a ete decrite chez les patients d’origine maghrebine par rapport aux Caucasiens. Dans des etudes recentes, la progression du handicap, comparee entre les patients vivant en Afrique du Nord, les immigrants nord-africains et les Caucasiens, etait plus severe chez les patients d’origine nord-africaine. En outre, la severite de la maladie chez les Nord-Africains vivant en France, en particulier chez ceux de la deuxieme generation, a ete demontree. En effet, l’evolution de la maladie serait due a une interaction complexe entre les facteurs genetiques et environnementaux. Au cours des dix dernieres annees, les chercheurs ont valide de nombreux facteurs genetiques et expositions environnementales qui augmentent la susceptibilite a la sclerose en plaques. L’allele HLA-DRB1 * 15/01 a ete associe a un risque plus important de developper la maladie. A la predisposition genetique, s’ajoutent les facteurs environnementaux. L’infection par le virus de l’Epstein-Barr, le tabagisme, et l’alimentation etaient associes au phenotype de la maladie. Ainsi, Son heterogeneite clinique pourrait resulter d’interactions gene-environnement. Des etudes supplementaires sont necessaires pour evaluer l’effet des facteurs environnementaux et genetiques sur la sclerose en plaques aux pays du Maghreb, afin d’etablir les mecanismes en cause et etudier les strategies preventives sous nos latitudes.

Resume Problematique De maniere assez paradoxale, les corticosteroides, anti-inflammatoires et immunomodulateurs puissants utilises dans le traitement des manifestations allergiques au sens large, sont dans certains cas a l’origine de veritables reactions d’hypersensibilite retardee. Objectifs Etudier le profil sociodemographique et professionnel des patients ayant une allergie cutanee aux dermocorticoides. Materiel et methodes Il s’agit d’une etude descriptive portant sur l’ensemble des cas d’allergie cutanee aux dermocorticoides colliges a l’unite de dermato-allergologie du service de medecine du travail et pathologies professionnelles du CHU Farhat Hached de Sousse durant une periode de 11 ans de 2005 a 2015. Resultats Au cours de la periode d’etude, 13 cas de sensibilisation aux corticoides ont ete colliges ce qui represente 0,76 % de l’ensemble des patch-tests realises au cours de la periode d’etude. La mediane d’âge des patients etait de 38 ans avec des extremes de 16 et 62 ans. Une legere predominance masculine etait notee (7 hommes vs 6 femmes). Seulement 8 patients etaient en activite professionnelle. La lecture des tests epictanes etait faite a 48 h pour tous les patients. La sensibilisation au budesonide etait retrouvee chez 7 patients, alors que les 6 autres patients etaient sensibilises au pivalate de tixocortol. Parmi les 13 cas d’eczema de contact aux corticoides, 9 cas avaient une co-sensibilisation a d’autres allergenes, alors que seulement 4 cas n’etaient sensibilises qu’aux corticoides (3 cas budesonide vs 1 cas au pivalate de tixocortol). La positivite des tests epictanes aux corticoides etait jugee pertinente chez 9 cas. Conclusion Les corticosteroides, de par leur effet anti-inflammatoire, peuvent masquer les signes cliniques d’allergie, mais aussi rendre l’interpretation des tests cutanes extremement difficile. Ainsi l’allergie aux corticosteroides reste largement meconnue par un grand nombre de cliniciens parmi lesquels beaucoup sont prescripteurs de ces medicaments.

The drafting of the initial medical certificate (IMC) is an innocuous act that can engage the responsibility of the certifier.To evaluate the quality of the IMC and their compliance with the legal provisions and to develop good practice recommendations for the drafting of the occupational accident certificate.An epidemiological, descriptive and retrospective study was conducted in the University Hospital Center Farhat Hached (Tunisia) based on the occupational accident certificates completed by physicians during a period of 12 months.In our study, 241 certificates were collected. The number of the patient's ID card was mentioned in 12% of cases. The date of the accident was noted in almost all cases (99.6%). The date of certification was indicated in all the cases. The average number of days of permanent work incapacity was significantly higher among male patients (p = 0.015), married patients (p≤10⁻³), and night workers (p = 0.05) and significantly lower among doctors (p ≤ 10⁻³).Our study showed that the quality of the initial medical certificate drafting suffered from several inadequacies. This may be related to the lack of training of doctors in forensic practice, hence the importance of reminding the rules of good practice.

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. One year after the last episode, neurological examination was normal. Brain MRI focused on the oculomotor nerve showed an enhancing nodular lesion suggesting a third nerve schwannoma. Thus, recurrent painful ophthalmoplegia revealing oculomotor nerve schwannoma, as described in our case, is exceptional. To our knowledge, only thirteen cases have been reported in the literature. Third nerve schwannoma is a rare cranial nerve tumor, typically revealed by progressive palsy of the oculomotor nerve. Recurrent painful ophthalmoplegia with persistent headache and enhancement in brain imaging should suggest tumoral lesions.

Aims The aims of this study were to analyze retinal and choroidal changes on optical coherence tomography (OCT) and OCT-Angiography (OCT-A) in Alzheimer's disease (AD) patients and compare them to other forms of major dementia. We also aimed to analyze the correlation between clinical severity of global cognitive deficiency assessed by the mini-mental state exam (MMSE) score and OCT/OCT-A parameters. Methods Retrospective cross-sectional evaluative study of AD, and age-and gender-matched patients with other dementias. Fundus examination, OCT and OCT-A were compared. Results Ninety-one eyes of AD patients and 53 eyes of patients with other dementias were included. Retinal deposits were found in 6.59% of AD cases. OCT highlighted the presence of hyperreflective deposits and localized areas of outer retina and ellipsoid zone disruption, respectively in 20.87% and 15.38% of AD cases. Hyperreflective foci were noted within inner retinal layers in 4.39% of AD cases. Quantitative analysis revealed a thicker nasal retinal nerve fiber layer (p = 0.001) and ganglion cell complex in superior (p = 0.011) and temporal quadrants (p = 0.009) in eyes of AD patients, compared to other dementias. OCT-A showed a significantly higher fractal dimension of both superficial and deep capillary plexus (p = 0.005), with lower choriocapillaris density (p = 0.003) in AD patients. Conclusions Structural OCT could highlight the presence of hyperreflective deposits in AD, probably reflecting beta-amyloid deposits, associated to outer retinal disruptions. Quantitative OCT analysis showed structural differences between AD patients and other dementias, and combined OCT-A could identify microvascular changes in AD patients representing new potential differential diagnosis criteria.

The operating theatre staff is exposed to various constraints such as excessive working hours, severe medical conditions and dreadful consequences in case of malpractice. These working conditions may lead to high and chronic levels of stress, which can interfere with medical staff well-being and patients quality of care. The aim of this study is toassess the impact of music therapy on stress levels and burnout risk on the operating room staff. This is a pre-experimental study including the operating rooms staff of urology and maxillofacial surgery in the academic hospital of Sahloul Sousse (Tunisia) over a period of six weeks. The study consisted of three phases. The first was an initial assessment of stress level with a predefined survey. The second included three music therapy sessions per day over one month. The third was an immediate stress level reassessment following the intervention. Stress levels were evaluated using the Perceived Stress Scale version PSS-10 and the Maslach Burnout Inventory. The overall response rate was 73.9%.The average age of the study population was 37.8 ± 7.7 years with a female predominance (64.7%). After the music therapy program, Perceived Stress Scale average score decreased from 22 ± 8.9 to 16 ± 7.9 (p = 0.006). Concerning the burnout, only the average score of emotional exhaustion decreased significantly from 27 ± 10.8 to 19.2 ± 9.5 (p = 0.004). Music therapy is an innovative approach that seems to reduce operating theatre staff stress. It must be considered as a non pharmacological, simple, economic and non invasive preventive tool.

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. We aimed to investigate the presence of rare genetic variants in the 4 most common ALS causative genes among a Tunisian cohort. Patients were screened for mutations in SOD1 (exons 1-5), TARDBP (exon 6), FUS (exons 5, 6, 13/14, and 15). Juvenile ALS (JALS) patients were screened also for ALS2 (exons 3, 10, 28). Analysis of C9ORF72 was conducted by fluorescent amplicon-length analysis and repeat-primed PCR. We analyzed 197 Tunisian ALS patients, including 11 familial forms (fALS) with 17 ALS cases, 167 sporadic (sALS) and 13 JALS cases. The pathogenic variant TARDBP p.G294A mutation was reported among 18 patients. Repeat expansion in C9orf72 was recorded in 9 patients. Interestingly, 2 unrelated patients carried a double mutation in both C9orf72 and TARDBP genes. Finally, the p.Asp91Val mutation in SOD1 was identified among 4 cases in homozygous state including 3 sALS and 1 familial JALS with recessive inheritance. No pathogenic variants in FUS were identified, nor ALS2 variants in JALS cases. In our Tunisian cohort the most frequently mutated gene is TARDBP (9.4%), followed by C9orf72 (3.9%) and SOD1 (2.1%). Our study broadens the mutational spectrum in patients with ALS and defines for the first time the mutational frequency of the main ALS genes in patients of African ethnicity.

The clinical spectrum of stiff-person syndrome (SPS) encompasses a wide range of signs including psychiatric symptoms (PS).Our objective was to provide an overview of the spectrum of PS in SPS through a systematic literature search and 2 illustrative case reports.We reported 2 anti-glutamic acid decarboxylase-positive SPS cases that presented with phobic disorder, and we performed a systematic review by following the 2020 Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Articles published in PubMed, MEDLINE on Ovid, Embase, and via a manual search before October 20, 2020, were selected by 2 independent reviewers. Original studies, case reports, editorials, commentaries, and letters to the editor reporting cases of SPS with PS were all included. Conference abstracts, reviews and book chapters, unavailable articles, and those not reporting SPS cases or PS were excluded. Quantitative summary data were calculated.In addition to our 2 cases, we identified 237 cases of SPS with PS from 74 additional included publications totaling 239 patients. Anxiety (56%) and depression (45%) were the most common PS in SPS. Mean diagnostic delay was 4.7 years. Among the 3 SPS phenotypes, the classic form was predominant (77%), followed by stiff-limb syndrome (13%) and progressive encephalomyelitis with rigidity and myoclonus (10%). The most frequent etiology of SPS with PS was autoimmune (90%), followed by cryptogenic (7%) and paraneoplastic forms (7%). These patients were mainly treated with immune-mediated therapies and GABAergic drugs.Our review revealed that the most common PS of SPS are anxiety and depression occurring mostly in autoimmune and classic forms, allowing a clearer understanding of this entity, which may lead to earlier diagnosis and better outcome.

International audience; Objective: To assess the availability of health workers and medications for clinical management of amyotrophic lateral sclerosis (ALS) in African hospital centers. Availability and affordability analyses of disease-modifying treatments were performed. Methods: A multicenter observational study involving African hospitals was conducted. A standard questionnaire was developed based on the European Federation of the Neurological Societies (EFNS) guidelines. We collected data on multidisciplinary care and availability of medicines. The availability and affordability were evaluated according to the WHO guidelines. Results: Nine hospital centers from eight African countries participated. We observed a low degree of implementation of multidisciplinary care in ALS management. Riluzole was only available in centers from South Africa, Senegal, Tunisia, and Togo. This treatment was unaffordable and the adjusted price was highly variable among countries. The cost of riluzole was partly or fully covered by patients, which implies a substantial economic burden. Conclusion: Our findings strengthen the need to promote multidisciplinary care in the clinical management of ALS in Africa. Disease-modifying medication should be both available and affordable. Local and international collaboration is needed to improve ALS health care access in Africa.

Objective: To describe the phenotypic heterogeneity of amyotrophic lateral sclerosis (ALS) in Tunisian patients, and to define the sociodemographic features, treatments, and survival rate with ALS....