Productions Scientifiques

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CONCLUSIONS: HE-DMTs reduced the risk of relapse in people at both high and low risk of aggressive MS, with no evidence of differential treatment benefit. In the overall population, no evidence of a difference in disability outcomes between HE-DMT-treated and HE-DMT-untreated time was observed. However, among patients ever exposed to HE-DMT, disability worsening was less common while treated with HE-DMT.

CONCLUSIONS: This study demonstrates that combining SNOMED CT-aligned ontology with Random Forest classification achieves superior diagnostic accuracy and enables personalized treatment recommendations for hearing loss. The hybrid framework provides clinically interpretable decision support while ensuring semantic interoperability with electronic health records. Multi-institutional validation studies are necessary to assess generalizability across diverse populations before clinical deployment.

CONCLUSION: This case highlights the hypothesis of chronic hyperglycemia being the direct cause of CPM. The underlying mechanism might be the toxicity of varying blood glucose levels towards the oligodendrocytes.

Rituximab (RTX) is increasingly used off-label for the treatment of multiple sclerosis (MS), yet real-world evidence from Middle Eastern populations remains limited. This multicenter, retrospective observational study evaluated the effectiveness and safety of RTX using data from the MENACTRIMS registry across seven Middle Eastern countries (Iraq, Kuwait, Lebanon, Oman, Saudi Arabia, Tunisia, and the United Arab Emirates). A total of 774 MS patients were included: 482 with relapsing-remitting MS...

Data on the prevalence of Multiple Sclerosis (MS) in Tunisia come back more than twenty years ago. Our study aimed to determine the prevalence of MS in Tunisia and to discuss the determining factors of its current status. The results suggested a trend towards an increase in the prevalence of MS in Tunisia reaching 58.3 per 100 000 inhabitants in 2020. It ranks Tunisia in a high prevalence MS zone but is still lower than that in the western countries and some MENA countries. The determining...

Myasthenia gravis, neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) are antibody-mediated neuroimmune disorders that frequently affect women in their reproductive years and require careful treatment planning around pregnancy. Disease exacerbations (for myasthenia gravis) and attacks (for NMOSD and MOGAD) can occur during pregnancy, are common postpartum, and can cause preventable, long-term maternal disability. Many drug...

CONCLUSION: LOMS and vLOMS exhibited a more progressive disease onset and higher disability milestones compared with AOMS.

Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune disorder affecting the central nervous system, often misdiagnosed as multiple sclerosis. The identification of aquaporin-4-IgG (AQP4-IgG) has improved diagnostic precision and enabled targeted therapies. Given the unique regional challenges in healthcare delivery across the Middle East and North Africa (MENA) region, the Middle East and North Africa Committee for Treatment and Research in Multiple Sclerosis (MENACTRIMS)...

CONCLUSION: Vertical switching should be preferred when treatment modification is required, particularly for patients with active disease. However, a subset of patients can achieve disease stability after horizontal switching, especially those with lower disability and fewer prior relapses. The dynamics of horizontal switching may further influence outcomes, warranting prospective validation.

CONCLUSION: This exploratory study indicates that switching to anti-CD20 therapies following natalizumab failure is associated with a >50% reduction in relapse risk. No differences were seen in secondary outcomes, despite consistent trends. Clinicians may consider anti-CD20 therapies following natalizumab failure, noting further research is needed to confirm differences in MRI and disability outcomes.

BackgroundInvestigating human oral microbiota is now of great interest, being clinically significant for general and oral health. Many research studies have started to focus on the link between oral microbial dysbiosis and Alzheimer's disease. However, little is known about North African populations.ObjectiveWe aimed to distinguish the dissimilarity in the structure of microbial oral flora between the Alzheimer's disease patients and healthy controls in a Tunisian population.MethodsWe...

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CONCLUSIONS AND RELEVANCE: In this cohort study, women with moderate to severe MS disability exhibited a pattern of peripregnancy relapse activity similar to that reported in women with less disability. Pregnancy was not associated with worse long-term disability outcomes, although optimizing disease control in the peripregnancy period remained critical.

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that impacts movement and cognition,caused by abnormal tau protein accumulation in the brain. It involves tau aggregation with 4-repeat domains in various brain regions and cell types. PSP is associated with the tau gene (MAPT),which contains recurrent genomic inversion. Evaluate the distribution and clinical impact of MAPT haplotypes on both motor and non-motor features among Tunisian PSP cohort. We conducted a cross-sectional...

Africa stands at a decisive moment in which urgent action is essential to safeguard its brain health and economic stability. While Africa's population remains predominantly young, it is expanding and aging rapidly. This demographic shift is projected to drive a sharp rise in neurodegenerative diseases, including Alzheimer's, with profound health and economic costs-but brain health research, policy, funding and care across the continent remain critically underdeveloped. In this Perspective, we...

Early prediction of disability progression in multiple sclerosis (MS) remains challenging despite its critical importance for therapeutic decision-making. We present the first systematic evaluation of personalized federated learning (PFL) for 2-year MS disability progression prediction, leveraging multi-center real-world data from over 26,000 patients. While conventional federated learning (FL) enables privacy-aware collaborative modeling, it remains vulnerable to institutional data...

CONCLUSION: The CGD-PD database will be instrumental in addressing the gap in PD research in the MENASA region, ultimately improving the quality of life for PD patients.

CONCLUSION: This first report from the newly launched MSBase pregnancy registry, establishes an increasing number of pregnancies being conceived on monoclonal antibody therapies. Although no safety signals were observed, it is important to continue monitoring for safety signals in real-world databases as the use of highly effective therapies continues to increase perinatally.

Idiopathic generalized epilepsy (IGE) represents a heterogeneous group of syndromes covering roughly 15 %-20 % of all epilepsies. It is believed to be a complex and polygenic disorder with numerous worldwide identified rare variants in several genes. Previously identified variants failed to fully explain the etiology and phenotypic heterogeneity. ApoE gene polymorphisms have been largely investigated in focal epilepsies but rarely in IGEs. Our objective is to investigate the frequency and role...

CONCLUSION: In this large, real-world cohort, natalizumab was associated with lower ARR, greater likelihood of disability improvement, lesser adverse events, but lower persistence compared with anti-CD20 therapies. These findings provide valuable insights into the comparative efficacy and safety of these RRMS therapies, aiding clinicians in personalised treatment decisions.

CONCLUSION AND RELEVANCE: Incidence and persistence of PIRA are determined by the definition used. The proposed standardized definition aims to enhance comparability among studies.

CONCLUSION: Our study confirms the high prevalence of AD in pwMS and highlights its correlation with the degree of disability, the presence of fatigue, and its negative impact on patients' quality of life.

CONCLUSION: The most common treatment-related adverse events were transient infusion-related pruritus and iron deficiency. There was a decline in BMD which could not be distinguished from the natural course of disease. There were no adverse effects on height, weight and body mass index noted, as documented by stable z-scores throughout the 2 years of treatment. Adverse events typically observed with prolonged glucocorticoid use such as Cushingoid features, weight gain, hypertension, hirsutism,...

Amyotrophic Lateral Sclerosis(ALS) has traditionally been managed as a neuromuscular disorder. However, recent evidence suggests involvement of non-motor domains. This study aims to evaluate the impact of APOE and MAPT genotypes on the cognitive features of ALS. We included confirmed ALS cases from the Neurology department at Razi University Hospital, Tunisia. APOE and MAPT screening were conducted with Sanger sequencing validation, and preliminary screening for four main ALS genes was...

Dopa-responsive dystonia (DRD) is an autosomal dominant disease with parkinsonian and dystonic symptoms caused by GCH1 gene pathogenic variants affecting dopamine synthesis. The present case report is the first to link DRD with childhood-onset with ALS, suggesting that complex inheritance patterns in the North African population may contribute to multiple disorders.

BACKGROUND AND OBJECTIVES: Women with multiple sclerosis (MS) are at risk of disease reactivation in the early postpartum period. Ocrelizumab (OCR) is an anti-CD20 therapy highly effective at reducing MS disease activity. Data remain limited regarding use of disease-modifying therapies (DMTs), including OCR, and disease activity during peripregnancy periods.

CONCLUSIONS: These results support the value of NfL as a sensitive and clinically meaningful CSF and blood biomarker to evaluate MS activity and outcomes among Tunisian MS patients.

BACKGROUND: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has limited their use, prompting the development of novel steroid delivery systems. The aim of the ATTeST study was to evaluate the efficacy and safety of intra-erythrocyte delivery of dexamethasone sodium phosphate compared with placebo in...

CONCLUSION: These findings suggest that measuring PgAgD expression in saliva could be a noninvasive tool for monitoring AD progression and aid in the early diagnosis of patients with periodontitis. Further research is needed to validate our results and explore the underlying mechanisms linking periodontitis, PgAgD expression, and AD pathophysiology.

Multiple Sclerosis (MS) is a complex neurological disease which prevalence is increasing worldwide. The impact of environmental factors on MS susceptibility has already been defined and highlighted in many previous reports, particularly vitamin D or ultraviolet B light exposure, Epstein-Barr virus (EBV) infection, obesity, and smoking. There is increasing evidence that environmental and lifestyle factors are not only important in triggering MS but are also implicated in MS progression. Low sun...

CONCLUSION: In this registry-based study of MS patients, age, sex, EDSS, obesity, progressive MS were risk factors for severe COVID-19. Moreover, there was an association found between exposure to anti-CD20 DMTs and COVID-19 severity.

Glutathione S-transferases are involved in the oxidative stress which contributes to the pathogenesis of Parkinson's disease (PD). our aim was to investigate the influence of GSTM1 and GSTT1 polymorphisms on the clinical features and treatments outcomes among PD Tunisian patients. We included 300-PD patients followed in neurology department at Razi-University-hospital. GSTM1 and GSTT1 were screened using PCR methods. Correlation between the clinical phenotype and the genotypes was then assessed...

CONCLUSION: This study determined survival rates in APS subgroups,which were comparable across synucleinopathies but shorter in PSP and longer in CBS.It also characterized demographic,phenotypic,and genetic profiles identifying more aggressive forms within APS subgroups.These findings address clinical gaps,aiding counseling for patients and families and guiding clinical management.Furthermore,they could facilitate patient stratification in clinical trials where mortality is an outcome measure.

CONCLUSION: Our study shows superior effectiveness of rituximab/ocrelizumab and alemtuzumab compared with fingolimod in stable patients switching from NTZ due to JC virus antibody positivity.

CONCLUSIONS: Good discrimination and calibration performance on an external validation set is achieved, using only routinely collected variables. This suggests machine-learning models can reliably inform clinicians about the future occurrence of progression and are mature for a clinical impact study.

CONCLUSIONS: Post-pandemic onset, clinicians preferentially prescribed natalizumab and cladribine over anti-CD20 mAbs and fingolimod, likely to preserve efficacy but reduce perceived immunosuppressive risks. This could have implications for disease progression in pwMS. Our findings highlight the significance of equitable DMT access globally, and the importance of evidence-based decision-making in global health challenges.

CONCLUSION: The present study demonstrated that the variability of the clinical profile among Tunisian PD patients was explained by the incomplete penetrance of LRRK2-G2019S, which increased with age. Further studies using biomarker and disease progression data are necessary to improve PD management.

CONCLUSIONS: In RRMS, the presence of CSF OCBs predicts shorter time to disability milestones, whereas CSF pleocytosis could be protective. This could however not be found in PPMS. CSF pleocytosis is associated with short-term inflammatory disease activity in RRMS. CSF analysis provides prognostic information which could aid in clinical and therapeutic decision-making.

BACKGROUND: High-efficacy disease-modifying therapies have been proven to slow disability accrual in adults with relapsing-remitting multiple sclerosis. However, their impact on disability worsening in paediatric-onset multiple sclerosis, particularly during the early phases, is not well understood. We evaluated how high-efficacy therapies influence transitions across five disability states, ranging from minimal disability to gait impairment and secondary progressive multiple sclerosis, in...

CONCLUSIONS: Occurrence of psychiatric disturbances was frequent in idiopathic epilepsy, with psychotic manifestations and anxiety being the most common of them. Female gender and long disease course were the main determining factors of psychiatric manifestations and should be considered in management of idiopathic epilepsy.

BACKGROUND AND OBJECTIVES: Patients with pediatric-onset multiple sclerosis (POMS) typically experience higher levels of inflammation with more frequent relapses, and though patients with POMS usually recover from relapses better than adults, patients with POMS reach irreversible disability at a younger age than adult-onset patients. There have been few randomized, placebo-controlled clinical trials of multiple sclerosis (MS) disease-modifying therapies (DMTs) in patients with POMS, and most...

CONCLUSION: This study demonstrated the wide phenotypic spectrum of PSP among Tunisians. Disease onset and akinetic-rigid and levodopa-resistant parkinsonism were the hallmarks of the PSP-RS phenotype, while milder cognitive impairment was characteristic of the PSP-subcortical subgroup. The APOEε4 allele was associated with earlier parkinsonism and oculomotor dysfunction and seemed to play a role in defining a more altered cognitive profile in PSP patients.

Elevated rates of consanguinity and inbreeding are responsible for the high prevalence of recessively inherited diseases among inbred populations including Tunisia. In addition, the co-occurrence of two of these conditions, called also comorbidity, within the same individual or in members of the same family are often described in Tunisia which is challenging for diagnosis. The high throughput sequencing has improved the diagnosis of inherited diseases. We report here on a 32-year-old woman born...

CONCLUSIONS: Our study revealed a few differences between DLB clinical subtypes. APOE ɛ4 appears to be associated with earlier falls and a higher prevalence of frontal syndrome in MXO-DLB. However, DLB clinical subtypes did not impact on survival. Nevertheless, survival analysis identified other poor prognosis factors, notably inaugural memory impairment and male gender.

It is unknown whether the currently known risk factors of multiple sclerosis reflect the etiology of progressive-onset multiple sclerosis (POMS) as observational studies rarely included analysis by type of onset. We designed a case-control study to examine associations between environmental factors and POMS and compared effect sizes to relapse-onset MS (ROMS), which will offer insights into the etiology of POMS and potentially contribute to prevention and intervention practice. This study...

BACKGROUND: An understanding of the genetic mechanisms underlying diseases in ancestrally diverse populations is an important step towards development of targeted treatments. Research in African and African admixed populations can enable mapping of complex traits, because of their genetic diversity, extensive population substructure, and distinct linkage disequilibrium patterns. We aimed to do a comprehensive genome-wide assessment in African and African admixed individuals to better understand...

CONCLUSION: In this study, the association of AHSCT with preventing relapses and facilitating recovery from disability was considerably superior to fingolimod and marginally superior to natalizumab. This study did not find evidence for difference in the effectiveness of AHSCT and ocrelizumab over a shorter available follow-up time.

CONCLUSIONS: The effectiveness of natalizumab and fingolimod in active RRMS is superior to dimethyl fumarate, teriflunomide, glatiramer acetate and interferon beta. This study demonstrates the utility of MSM in emulating trials to compare clinical effectiveness among multiple interventions simultaneously.

Geographical variations in the incidence and prevalence of multiple sclerosis have been reported globally. Latitude as a surrogate for exposure to ultraviolet radiation but also other lifestyle and environmental factors are regarded as drivers of this variation. No previous studies evaluated geographical variation in the risk of secondary progressive multiple sclerosis, an advanced form of multiple sclerosis that is characterized by steady accrual of irreversible disability. We evaluated...

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.

Primary headache disorders are worldwide highly prevalent and burdensome and should be therefore considered as a global public health priority. However, too many patients with primary headache disorders still do not receive satisfying care. The most likely identified reasons for such a scenario - lack of public awareness, stigma, lack of trained professionals with inadequate healthcare systems and policies - are remediable. Despite the progresses that were made in headache advocacy, these...

CONCLUSIONS: We demonstrate later onset of the progressive phase and slower disability accrual in SPMS versus PPMS. This may balance greater baseline disability in SPMS, yielding convergent disability trajectories across phenotypes. The different rates of disability accrual should be considered before amalgamating PPMS and SPMS in clinical trials.

The World Health Assembly (WHA) approved the Intersectoral Global Action Plan (IGAP) in 2022. This ambitious project, formally called the Intersectoral Global Action Plan for Epilepsy and Other Neurological Disorders, is a 10-year plan to enhance neurology implementation worldwide and to raise the status of brain health and neurology services for patients with neurological diseases. The IGAP has 5 important components: relation with policy makers, therapy, prophylaxis, research, and public...

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Essential tremor (ET) encompasses a wide spectrum of motor and non-motor features. Eye movement abnormalities were first reported two decades ago as an atypical finding in ET. Today, a growing number of publications about eye movement abnormalities in neurodegenerative diseases have helped understand their pathophysiology and the basis of their phenotypic variability. Thus, addressing such aspect in ET may disentangle, based on the oculomotor network abnormalities, the dysfunctional brain...

CONCLUSION: This study suggests that early non-disabling relapses are associated with a higher risk of disability accumulation than no early relapses in RRMS. This risk may be mitigated by high-efficacy DMTs. Therefore, non-disabling relapses should be considered when making treatment decisions.

CONCLUSIONS: The relative effectiveness of two therapies can be efficiently compared by either marginal structural models or propensity score matching when applied in clearly defined clinical contexts and in sufficiently powered cohorts.

CONCLUSIONS: DMT is generally most effective among patients with lower disability and in relapsing MS phenotypes. There is no evidence of attenuation of the effect of DMT with age.

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.

CONCLUSION: In this study, the main determinants of CI in Tunisian MSA patients were MSA-P motor-subtype, mainly of PIGD-phenotype, disease duration and APOEε4 carrying status, defining a more altered cognitive phenotype. This effect mainly concerned executive, attention and language functions, all found to be more impaired in APOEε4 carriers with variable degrees across MSA motor-subtypes.

There is no consensus regarding the classification of optic neuritis, and precise diagnostic criteria are not available. This reality means that the diagnosis of disorders that have optic neuritis as the first manifestation can be challenging. Accurate diagnosis of optic neuritis at presentation can facilitate the timely treatment of individuals with multiple sclerosis, neuromyelitis optica spectrum disorder, or myelin oligodendrocyte glycoprotein antibody-associated disease. Epidemiological...

CONCLUSIONS: A relatively later onset of MS in childhood, higher disability and pyramidal, visual or cerebellar symptoms during the first year predicted significant worsening in disability in patients with paediatric-onset MS. Persistent treatment with higher-efficacy DMTs was associated with a reduced rate of disability worsening.

CONCLUSIONS: Contrary to previous interpretations, patients with SPMS progress at greatly different rates. Our identification of distinct trajectories can guide better patient selection in future phase 3 SPMS clinical trials. Additionally, distinct trajectories could reflect heterogeneous pathological mechanisms of progression.

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)...

The protein phosphatase 2A complex (PP2A), the major Ser/Thr phosphatase in the brain, is involved in a number of signalling pathways and functions, including the regulation of crucial proteins for neurodegeneration, such as alpha-synuclein, tau and LRRK2. Here, we report the identification of variants in the PTPA/PPP2R4 gene, encoding a major PP2A activator, in two families with early-onset parkinsonism and intellectual disability. We carried out clinical studies and genetic analyses, including...

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BACKGROUND AND OBJECTIVES: To evaluate the rate of return of disease activity after cessation of multiple sclerosis (MS) disease-modifying therapy.

CONCLUSIONS: 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.

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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...

CONCLUSION: 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.

We describe a Tunisian family carrier of the same rare mutation in TARDBP but developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability. Genetic analysis identified TARDBP p.G294A mutation among4 members. Additionally, the ALS case was muted in GBA. While the three cases of AD were carriers of PRKN and GBA mutations. Finally, the FTD-parkinsonism patient was mutated for LRRK2...

CONCLUSIONS: Despite the high psychiatric and social burden of akathisia, it remains largely underdiagnosed and undertreated, because in part of its subjective component.

CONCLUSIONS: Clinicodemographic characteristics of 6-month confirmed disability progression events identify those at high risk of sustained long-term disability. This knowledge will allow future trials to better assess the effect of therapy on long-term disability accrual.

Since the beginning of the Coronavirus disease-2019 pandemic, there has been a growing interest in exploring SARS-CoV-2 genetic variation to understand the origin and spread of the pandemic, improve diagnostic methods and develop the appropriate vaccines. The objective of this study was to identify the SARS-CoV-2s lineages circulating in Tunisia and to explore their amino acid signature in order to follow their genome dynamics. Whole genome sequencing and genetic analyses of fifty-eight...

BACKGROUND: Stroke is a neurological emergency affecting both developed and developing countries. In Djibouti, stroke is the fourth leading cause of death. Our objective was to describe the demographic, clinical, paraclinical profile of stroke in Djibouti and identify the possible underlying risk factors.

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...

CONCLUSIONS: The Arabic version of the MDS-UPDRS has good construct validity in Arabic-speaking patients with PD and has been thereby designated as an official MDS-UPDRS version. The data collection methodology among Arabic-speaking countries across two continents of Asia and Africa provides a roadmap for validating additional MDS rating scale initiatives and is strong evidence that underserved regions can be energically mobilized to promote efforts that apply to better clinical care, education,...

Over the recent years, the treatment of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) has evolved very rapidly and a large number of disease-modifying treatments (DMTs) are now available. However, most DMTs are associated with adverse events, the most frequent of which being infections. Consideration of all DMT-associated risks facilitates development of risk mitigation strategies. An international focused workshop with expert-led discussions was sponsored by the...

With population ageing worldwide, dementia poses one of the greatest global challenges for health and social care in the 21st century. In 2019, around 55 million people were affected by dementia, with the majority living in low- and middle-income countries. Dementia leads to increased costs for governments, communities, families and individuals. Dementia is overwhelming for the family and caregivers of the person with dementia, who are the cornerstone of care and support systems throughout the...

CONCLUSION: 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...

CONCLUSIONS: Our findings suggested a role of APOE-ε4 in defining a more altered cognitive phenotype with variable degrees across subgroups in APS patients, especially in DLB carriers. This effect mainly concerned executive, memory and orientation functions as well as hallucinations.

BACKGROUND: Therapeutic options for children with multiple sclerosis are scarce. Teriflunomide is approved in more than 80 countries for the treatment of adults with relapsing multiple sclerosis. The TERIKIDS study examined the safety and efficacy of teriflunomide in children with relapsing multiple sclerosis.

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...

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Patients with multiple sclerosis (MS) should be vaccinated against COVID-19. All COVID-19 vaccines are effective and do not appear to carry any additional risk for patients with MS. Patients with MS should get a COVID-19 vaccine as soon as it becomes available. The risks of COVID-19 disease outweigh any potential risks from the vaccine. Even if vaccinated, patients with MS should continue to practice standard and recommended precautions against COVID-19, such as wearing a face mask, social...

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...

CONCLUSIONS: Compared to the models available in the literature, this work uses the most complete patient history for MS disease progression prediction and represents a step forward towards AI-assisted precision medicine in MS.

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CONCLUSION: Intrapartum and postpartum relapse probabilities increased among women with MS after natalizumab or fingolimod cessation. In women considered to be at high relapse risk, use of natalizumab before pregnancy and continued up to 34 weeks gestation, with early re-initiation after delivery is an effective option to minimize relapse risks. Strategies of DMT use have to be balanced against potential fetal/neonatal complications.

Few studies examine health-related quality of life (HRQoL) in Arabic-speaking multiple sclerosis (MS) patients. However, HRQoL tools such as the Short Form-36 QoL instrument (SF-36) and the Multiple Sclerosis International QoL (MusiQoL) questionnaire have been validated in other languages. The primary objective of this study was to prospectively assess HRQoL using the MusiQoL questionnaire among Arabic-speaking MS patients treated with subcutaneous interferon (sc IFN β-1a) over 12 months, as...

CONCLUSION: Our study demonstrated that patients in AC are more sensitive than rEEC in the early diagnosis of ALS in our Tunisian cohort. However, this superiority is gradually reduced during the evolution of the disease.

CONCLUSIONS: Pre-treatment EDSS and ARR are the most important determinants of therapeutic lag.

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.

CONCLUSIONS: This is the largest African epidemiological study on APS. In our population, APS were frequent and dominated by DLB. The age of onset of parkinsonism was the most decisive feature for differential diagnosis.

Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 cases. Mutations were found in 14.1% of patients; 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians, whereas PINK1 mutations predominated in Arab-Berber individuals....