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Introduction
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Publications
Publications (159)
Although substantial advancements have been made in genetic testing, several barriers continue to limit patient access, leading to delays in diagnosis, effective treatments, and preventative measures. The NEUROMYODredger‐3billion Megaproject End the Diagnostic Odyssey grant offered free whole exome sequencing (WES) to 245 patients with undiagnosed...
Background and Aims
In 2019, we conducted a cross‐sectional study, collecting information on 50 patients with CMT4B, an ultrarare CMT subtype, to better define the clinical phenotype. We now aimed at investigating disease progression in 26 patients with CMT4B1/CMT4B2, recruited from the previous study and among the Inherited Neuropathy Consortium....
Background:
Congenital myasthenic syndromes (CMS) are rare genetic neuromuscular disorders. The COLQ gene encoding the collagenous subunit of the acetyl cholinesterase enzyme tail is implicated in a synaptic form of CMS (also called type 5, according to the new gene table 2020 classification).
Objective:
To study the clinical phenotype of three...
Le gène RYR1 (Ryanodine-Receptor-1) code pour une protéine-clé dans le processus de couplage excitation-contraction de la fibre musculaire. Ce récepteur est le principal canal de libération du calcium à partir du réticulum endoplasmique [1]. Un certain nombre de phénotypes cliniques sont imputables aux mutations de ce gène de grande taille comme ra...
Background: Dementia is one of the main causes of disability and dependence in the elderly. The aim of the study is to improve the knowledge of dementia, by establishing its prevalence in a region of Algiers and thus enrich its epidemiology aspect. Materials and Methods: A cross-sectional, door-to-door study in the Department of Sidi M'Hamed in the...
Background
Congenital myasthenic syndromes caused by mutations in the COL13A1 gene are very rare and have a phenotype described as severe. We present the first case of congenital myasthenic syndrome described in Algeria and the Maghreb with a new mutation of this gene.
Case presentation
We present an 8-year-old Algerian female patient, who present...
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 q...
Introduction
La maladie de Krabbe est une affection lysosomale autosomique récessive, liée à un déficit en galactosylceramidase par mutation du gène GALC, occasionnellement causée par une mutation du gène prosaposine (PSAP).
Observation
Il s’agit d’un nourrisson de cinq mois, de sexe féminin, d’origine syrienne, issue d’un mariage consanguin, née...
Les myopathies génétiques représentent un groupe très hétérogène d’affections associant classiquement un déficit musculaire des ceintures mais aussi d’autres manifestations très variées comprenant l’insuffisance respiratoire, la cardiomyopathie, les contractures et ou les hyperlaxités ligamentaires voire des atteintes extramusculaires. Le diagnosti...
Introduction
La neuromyélite optique de Devic (NMO) et les syndromes liés aux anti-myelin oligodendrocyte glycoprotein (MOG) sont des affections à médiation immunitaire. Nous rapportons deux cas de NMO et de MOGopathie associés à un cancer mammaire et gastrique.
Observation
Mme D.O., 45 ans présenta une névrite optique bilatérale sévère et une myé...
Spastic ataxias are rare neurogenetic disorders involving spinocerebellar and pyramidal tracts. Many genes are involved. Among them, CAPN1 , when mutated, is responsible for a complex inherited form of spastic paraplegia (SPG76). We report the largest published series of 21 novel patients with nine new CAPN1 disease-causing variants and their clini...
Introduction
Les stratégies actuelles du diagnostic moléculaire des dystrophinopathies ont considérablement évolué. Dans la majorité des cas, il est possible de corréler la sévérité du phénotype avec l’impact de la mutation sur l’expression de la dystrophine.
Objectifs
Instaurer cette technique de biologie moléculaire en milieu hospitalier à la pl...
Background
The penetrance of leucine rich repeat kinase 2 (LRRK2 ) mutations is incomplete and may be influenced by environmental and/or other genetic factors. Nonsteroidal anti‐inflammatory drugs (NSAIDs) are known to reduce inflammation and may lower Parkinson's disease (PD) risk, but their role in LRRK2 ‐associated PD is unknown.
Objectives
The...
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 fam...
Le syndrome de CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) est une pathologie inflammatoire rare du système nerveux central (SNC) impliquant principalement le tronc cérébral et en particulier la protubérance. Récemment décrite en 2010 par l’équipe de la Mayo Clinic [1] à partir d’une séri...
Objective
Charcot‐Marie‐Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin‐related protein (MTMR) mutations. We conducted a multicenter, retrospective stu...
Objective
We describe and compare the sociodemographic and clinical features, treatments, and prognoses and survival times of patients with amyotrophic lateral sclerosis (ALS) in Africa.
Methodology
We conducted a multicentre, hospital-based cohort study in Africa. Patients with ALS diagnosed in the neurology departments of participating hospitals...
Introduction
La neuromyélite optique de Devic (NMO) est une maladie inflammatoire du système nerveux central associant classiquement une neuropathie optique (NO) uni- ou bilatérale et une myélite aiguë.
Observation
Patiente âgée de 52 ans, femme au foyer, sans antécédents pathologiques particuliers, a présenté une baisse brutale bilatérale sévère...
Introduction
Le syndrome de CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) est une affection inflammatoire rare, curable du système nerveux central touchant préférentiellement le tronc cérébral.
Observation
Nous rapportons les cas de trois patients : 2 hommes et 1 femme âgés de 32, 37 et 62...
Introduction
Les syndromes myasthéniques congénitaux (SMC) constituent un groupe hétérogène de maladies génétiques dont certains phénotypes cliniques et électrophysiologiques permettent d’orienter la génétique.
Observation
Nous rapportons les cas de 5 patients issus de deux familles différentes et qui présentent deux mutations du gène codant le Co...
Introduction
La sensibilité et la valeur prédictive des anticorps anti-gangliosides pour le diagnostic des maladies du motoneurone demeure peu claire. La présence d’anticorps dirigés contre une variété de ganglioside a été décrite chez les patients atteints de SLA sporadique.
Observation
Nous rapportons le cas d’un patient atteint d’une sclérose l...
Introduction
Le syndrome CACH (childhood ataxia with central nervous system hypomyelinisation) et la leucoencephalopathie avec mégalencéphalie et « kystes » sous-corticaux (LMC) Sont des entités rares de leucodystrophies héréditaires.
Objectifs
Décrire les caractéristiques cliniques et neuroradiologiques de ces formes rares de leucodystrophies inf...
Objective:
The continual discovery of disease-causing gene mutations has led to difficulties in the complex classification of Charcot-Marie-Tooth diseases (CMT) that needs to be revised.
Methods:
We recently published a proposal to update the classification of inherited neuropathies. The reactions from colleagues prompted us to diffuse the propo...
Importance
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia due to mutations in the aprataxin gene (APTX) that is characterized by early-onset cerebellar ataxia, oculomotor apraxia, axonal motor neuropathy, and eventual decrease of albumin serum levels.
Objectives
To improve the clinical, biomarker, and mole...
In hereditary neuropathies, next-generation sequencing techniques are producing a vast number of candidate gene mutations that need to be verified or excluded by careful genotype–phenotype correlation analysis. In most cases, clinical acumen is still important but needs to be combined with data from nerve conduction studies and, in some cases, from...
The wide spectrum of hereditary muscular disorders leads to unavoidable difficulties in their classification, even for specialists. For this reason, new proposals are required that would ultimately replace our current rather complex classifications by a simpler structure. Our proposal will be limited to dystrophic and non-dystrophic myopathies (exc...
Introduction
La dystonie est definie par une contraction musculaire anormale responsable de mouvements ou de postures anormales. La forme monogenique la plus frequente est la DYT1 liee au gene TOR1A.
Objectifs
Determiner la frequence de la dystonie DYT1 chez des patients algeriens.
Patients et methodes
Nous rapportons une serie de 9 patients âges d...
Introduction
Les dystrophies musculaires des ceintures et les dystrophies musculaires congénitales sont deux formes de myopathies héréditaires qui se distinguent par leur âge d’apparition mais sont sous-tendues par des mécanismes physiopathologiques communs.
Observation
Nous rapportons l’observation de deux branches consanguines d’une famille comp...
Introduction
L’avenement des bio-marqueurs dans le diagnostic des encephalites autoimmunes a permis un changement de paradigme dans la prise en charge de cette affection avec orientation clinique et paraclinique du diagnostic immunologique.
Objectifs
Notre objectif est de rapporter les caracteristiques cliniques, immunologiques et evolutives de dix...
Introduction
Les troubles cognitifs (TC), dans le neurobehcet (NB), sont de plus en plus connus. Il s’agit le plus souvent de troubles de la mémoire, du comportement et des fonctions exécutives.
Objectifs
Évaluer les fonctions cognitives chez des patients atteints de NB et les comparer à ceux des sujets sains, ayant les mêmes caractéristiques épid...
Background:
Leucine-rich repeat kinase 2 (LRRK2) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13-30% in Ashkenazi Jewish populations, and 30-40% in North African Arab-Berber populations, although age of onset is variable. Some carriers have early-onset parkinsonism, whereas others...
Establishing a molecular diagnosis of autosomal recessive cerebellar ataxias (ARCA) is challenging due to phenotype and genotype heterogeneity. We report the validation of a previously published clinical practice-based algorithm to diagnose ARCA. Two assessors performed a blind analysis to determine the most probable mutated gene based on comprehen...
Neurodegenerative disorders represent a wide group of diseases affecting the central and/or peripheral nervous system. Many of these disorders were described in the 19th century, but our genetic knowledge of them is recent (over the past 25 years). However, the continual discovery of disease-causing gene mutations has led to difficulties in the cla...
Introduction La classification des maladies neurogénétiques s’est complexifiée en raison d’une incrémentation numérique systématique au fur et à mesure de la découverte de nouveaux gènes, sans référence claire au phénotype et au mode de transmission. Objectifs Identifier les difficultés liées à la classification actuelle et proposer des modificatio...
Introduction
Les ataxies cérébelleuses autosomiques récessives (ARCA) sont des pathologies neurodégénératives complexes. Avec plus de 30 gènes associés et plus de 20 entités cliniques, le diagnostic étiologique est très ardu.
Objectifs
Identification et caractérisation fine et précise des altérations moléculaires responsables de phénotypes d’ARCA...
Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity f...
Staphylococcus aureus is a major bovine mastitis pathogen responsible for heavy economic losses in dairy industry. Identification of epidemiological aspects associated with bovine mastitis may be helpful in treatment and management decisions. Due to high concern of zoonotic infections, we describe here, the distribution and antimicrobial susceptibi...
Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with great genetic and phenotypic heterogeneity, over 30 genes/loci have been associated with more than 20 different clinical forms of ARCA. Genetic heterogeneity combined with highly variable clinical expression of the cerebellar symptoms and overlappi...
Background:
Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis.
Objective:
We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition.
Results:
16 p...
Alzheimer's disease (AD), the most common form of dementia in the elderly, is a neurodegenerative disorder associated with a complex pathophysiology. It is accepted that inflammation contributes to the pathogenesis of AD. All-trans-retinoic acid (ATRA) is a bioactive derivative of vitamin A that has shown immunomodulatory effects in many immune dis...
Charcot-Marie-Tooth (CMT) disease, the most frequent form of inherited neuropathy, is a genetically heterogeneous group of disorders of the peripheral nervous system, but with a quite homogeneous clinical phenotype (progressive distal muscle weakness and atrophy, foot deformities, distal sensory loss and usually decreased tendon reflexes). Our aim...
Introduction
Le spectre clinique et génétique des neuropathies héréditaires liées aux mutations du gène GDAP1 est relativement large, comprenant des formes démyélinisantes et axonales de transmission autosomique récessive ou dominante.
Observation
Nous rapportons les observations de 3 patients appartenant à 2 familles Algériennes, chez lesquelles...
Introduction
Les dystrophinopathies et les LGMD2 representent un ensemble tres heterogene de myopathies genetiques ayant en commun une atteinte musculaire des ceintures. Nous rapportons les resultats d’une etude de 122 familles algerienne.
Objectifs
Definir les caracteristiques clinico-histologiques et genetiques de patients presentant un tableau d...
Introduction
ARCA2 est une forme d’ataxie cérébelleuse autosomique récessive peu évolutive, précoce (durant l’enfance), se caractérisant cliniquement par un syndrome cérébelleux le plus souvent modéré ainsi qu’une intolérance à l’effort.
Objectifs
Nos travaux visaient à identifier et caractériser des mutations dans le gène ADCK3, responsable de la...
Introduction
L’ataxie avec apraxie oculomotrice de type 1 (AOA1) est caractérisée par une ataxie cérébelleuse autosomique récessive d’apparition précoce avec atteinte cognitive, hypoalbuminémie, hypercholestérolémie et neuropathie.
Objectifs
Nos analyses visaient à explorer le gène de l’aprataxine (APTX) afin d’identifier des mutations chez nos pa...
Introduction
Le syndrome de Marinesco-Sjögren (MSS), de transmission autosomique récessive et d’apparition précoce/congénitale, se manifeste par une cataracte, une ataxie cérébelleuse, une myopathie et un retard mental modéré à sévère.
Objectifs
Le but de notre travail était d’explorer sur un plan moléculaire des patients algériens avec ataxie aut...
Several hereditary disorders not discussed so far may be responsible for pathological lesions of the peripheral nervous system which are usually axonal-type, moderate in degree and non-specific. These diseases may be clinically separated into three groups: isolated (distal hereditary motor neuropathy), neuropathies associated with central nervous s...
Hereditary motor and sensory neuropathies (HMSN) or Charcot-Marie-Tooth (CMT) diseases are the most common degenerative disorders of the peripheral nervous system. However, the frequency of the different subtypes varies within distinct populations. Although more than seventy clinical and genetic forms are known to date, more than 80% of CMT patient...
Alzheimer's disease (AD) is a neurodegenerative disease leading to a progressive and irreversible loss of mental functions. It is characterized by 3 stages according to the evolution and the severity of the symptoms. This disease is associated with an immune disorder, which appears with significant rise in the inflammatory cytokines and increased p...
Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial differenc...
Background and Aims
There is growing evidence that increased blood concentration of total homocysteine (tHcy) may be a risk factor for Alzheimer's disease (AD). The present study was conducted to evaluate the association of serum tHcy and other biochemical risk factors with AD. Methods. This is a case-control study including 41 individuals diagnose...
This chapter will summarize the recent developments regarding inherited neuropathies with a focus on "pure" hereditary neuropathies in which a peripheral neuropathy is the salient clinical feature. Thus, this chapter will not address any neurodegenerative disorders associated with peripheral neuropathy such as leukodystrophies, familial amyloidosis...
We report two sisters, aged 11 and 6years, with AGAT deficiency syndrome (OMIM 612718) which is the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed an important language delay, a progressive proximal muscular weakness in the lower limbs with Gower...
The prevalence of Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) varies in different populations. While in some countries of Western Europe, the United States and Japan the dominant form of HMSN is the most frequent, in other countries such as those of the Mediterranean Basin, the autosomal recessive form (AR-CM...
Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most frequent neuromuscular diseases in humans (1/3,500–6,000 live male births), characterized by an X-linked recessive pattern of inheritance and therefore affecting mainly male individuals. DMD and BMD are allelic disorders resulting from genetic defects, mostly intragenic delet...
Alzheimer’s disease (AD) is a neurodegenerative disorder leading to cognitive impairment (amnesia, aphasia, apraxia and agnosia), characterized by three major stages according to the evolution and the severity of the symptoms. Numerous reports have indicated that neuroinflammatory process contributes to the pathogenesis of AD. Current theories sugg...
Background/aims:
The prevalence of epilepsy in Algeria is unknown. The aims of this multicenter transversal study were to determine the national prevalence and clinical characteristics of epilepsy in the Algerian population.
Methods:
This two-phase study was conducted in 5 circumscriptions and included 8,046 subjects aged over 2 months who atten...
Les infections chez le diabétique restent très fréquentes, en particulier les infections urinaires et du pied diabétique; elles posent un problème de prise en charge thérapeutique vu leur fréquence, leur récidive et la fragilité du terrain sur lequel elles interviennent, Leur caractére est souvent polymicrobien et multirésistant aux antibiotiquesMa...
Autosomal recessive Charcot-Marie-Tooth diseases, relatively common in Algeria due to high prevalence of consanguineous marriages, are clinically and genetically heterogeneous. We report on two consanguineous families with demyelinating autosomal recessive Charcot-Marie-Tooth disease (CMT4) associated with novel homozygous mutations in the MTMR2 ge...
USA300 is an epidemic community-acquired methicillin-resistant Staphylococcus aureus (C-MRSA) clone in the USA, whereas the European C-MRSA clone ST80-IV has mainly a sporadic diffusion in Europe. The prevalence of European clone ST80-IV in Algeria is poorly documented. We prospectively studied S. aureus infections at Mustapha Bacha hospital in Alg...
The diagnosis of rare inherited diseases is becoming more and more complex as an increasing number of clinical conditions appear to be genetically heterogeneous. Multigenic inheritance also applies to the autosomal recessive progressive cerebellar ataxias (ARCAs), for which 14 genes have been identified and more are expected to be discovered. We us...
Coenzyme Q(10) (CoQ(10)) is essential for electron transport in the mitochondrial respiratory chain and antioxidant defense. The relative importance of respiratory chain defects, ROS production, and apoptosis in the pathogenesis of CoQ(10) deficiency is unknown. We determined previously that severe CoQ(10) deficiency in cultured skin fibroblasts ha...
A series of 106 patients with isolated or familial Parkinsonism underwent clinical evaluation and genetic testing for the LRRK2 G2019S mutation which was identified in 34/106 patients (32%). Seventy one of them accepted to be evaluated for neuropsychological and neuropsychiatric studies with the aim to compare mutation carriers with non-carriers. F...
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Previously, we mapped th...
Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent. Intriguingly, the frequency of this mutation in PD patients varies greatly among ethnic groups and geographic origins: it is present at <...
This study reports the antimicrobial resistance of Streptococcus pneumoniae, Haemophilus influenzae and Streptococcus pyogenes isolated from patients in Algeria, Morocco and Tunisia. 672 non-duplicate isolates were recovered from May 2006 to May 2007. The minimum inhibitory concentrations (MICs) were determined using the E-test and interpreted acco...
To determine the prevalence of community acquired and hospital methicillin-resistant Staphylococcus aureus (S. aureus) infections and the Panton-Valentine leukocidin.
Seven hundred S. aureus strains were collected during 21 months period in Mustapha Bacha hospital. Bacterial identification was based on standard methods and susceptibilities were tes...