A5086162355- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Neurogenetic and Muscular Disorders Research
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Cellular transport and secretion
- Nuclear Receptors and Signaling
- COVID-19 Clinical Research Studies
- Neurological disorders and treatments
- Endoplasmic Reticulum Stress and Disease
- Erythrocyte Function and Pathophysiology
- Forensic and Genetic Research
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Peripheral Neuropathies and Disorders
- Bone and Dental Protein Studies
- Caveolin-1 and cellular processes
- Antioxidant Activity and Oxidative Stress
- Genomics and Phylogenetic Studies
- Toxin Mechanisms and Immunotoxins
- Cell Adhesion Molecules Research
- Blood groups and transfusion
Mohammed V University
2014-2024
Hôpital Universitaire International Cheikh Khalifa
2018-2024
Université Internationale Abulcasis des Sciences de la Santé
2018-2024
Direction de l’Epidémiologie et de Lutte contre les Maladies
2014
Centre Hospitalier Universitaire de Rabat-Salé
2014
Hôpital 20 Août
2004-2012
Inserm
1999-2006
Sorbonne Université
1999-2006
Pitié-Salpêtrière Hospital
1999-2006
Surgical Specialties (United States)
2006
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal tract function. Although the genetic basis is partly understood, only a fraction cases can receive diagnosis, and global view HSP lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative genes validated nearly all these functionally or genetically. The pathways highlighted...
Background: Non-motor symptoms (NMSs) are a real burden in Parkinson's disease (PD). They may appear early pre-symptomatic stage as well throughout the course. However, their relationship with deterioration of patient's quality life (QoL) is still under debate. The present study aimed to investigate prevalence NMSs and impact on QoL cohort Moroccan patients. Methods: We carried out cross-transactional where total 117 patients were submitted structured clinical interview examination...
<b>Background:</b> Mutilating sensory neuropathy with spastic paraplegia is a very rare disease both autosomal dominant and recessive modes of inheritance. We previously mapped the locus form to 25 cM interval between markers D5S2048 D5S648 on chromosome 5p. In this candidate interval, Cct5 gene encoding epsilon subunit cytosolic chaperonin-containing t-complex peptide-1 (CCT) was most obvious since mutation in Cct4 CCT delta has been reported be associated mutilating mutilated foot (mf) rat...
<h3>Background</h3> Hereditary spastic paraparesis (HSP) (syn. paraplegia, SPG) are a group of genetic disorders characterised by spasticity the lower limbs due to pyramidal tract dysfunction. Nearly 60 disease loci have been identified, which include mutations in two genes (<i>KIF5A</i> and <i>KIF1A</i>) that encode motor proteins kinesin superfamily. Here we report novel defect <i>KIF1C</i> patients with cerebellar dysfunction consanguineous families Palestinian Moroccan ancestry....
Studies of the phenotype and population distribution rare genetic forms parkinsonism are required, now that gene‐targeting approaches for Parkinson disease have reached clinical trial stage. We evaluated frequencies PRKN , PINK1 DJ‐1 mutations in a cohort 1,587 cases. Mutations were found 14.1% patients; 27.6% familial 8% isolated. was gene most frequently mutated Caucasians, whereas predominated Arab‐Berber individuals. Patients with had an earlier age at onset, less asymmetry,...
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies with several modes inheritance: autosomal dominant, X-linked, recessive (AR) CMT. A locus responsible for the demyelinating form ARCMT was assigned to 5q23-q33 region (CMT4C) by homozygosity mapping. Recently, 11 mutations were identified in SH3TC2 (KIAA1985) gene 12 families from Turkish, Iranian, Greek, Italian, or German origin.To identify gene.The authors searched 10...
Background . The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson’s disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies Maghreb population. In present study, we examined prevalence Moroccan population compared motor nonmotor phenotype carriers patients with idiopathic disease. Methods 100 PD were assessed for symptoms, current medication, complication including fluctuations dyskinesia. was...
Abstract Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped paraplegia 28 ( SPG28 ) locus to chromosome 14q21.3‐q22.3 a Moroccan family with autosomal recessive paraplegia. Affected patients experienced development of gait during childhood required help walking their early 40s. Nine additional families were not linked this locus, demonstrating further genetic heterogeneity. No mutations found exons GCH1 SPG3A , two genes...
The clinical presentation of COVID-19 shows high variability among individuals, which is partly due to genetic factors. OAS1/2/3 cluster has been found be strongly associated with severity. We examined this locus in the Moroccan population for occurrence critical variant rs10774671 and its respective haplotype blocks. frequency single-nucleotide polymorphisms (SNPs) OAS immunity genes 157 unrelated individuals origin was determined using an in-house exome database. OAS1 exon 6 71...
Abstract The protein phosphatase 2A complex (PP2A), the major Ser/Thr in brain, is involved a number of signalling pathways and functions, including regulation crucial proteins for neurodegeneration, such as alpha-synuclein, tau LRRK2. Here, we report identification variants PTPA/PPP2R4 gene, encoding PP2A activator, two families with early-onset parkinsonism intellectual disability. We carried out clinical studies genetic analyses, genome-wide linkage analysis, whole-exome sequencing,...
The most common cause of the monogenic form Parkinson's disease known so far is G2019S mutation leucine-rich repeat kinase 2 (LRRK2) gene. Its frequency varies greatly among ethnic groups and geographic regions ranging from less than 0.1% in Asia to 40% North Africa. This has three distinct haplotypes; haplotype 1 being oldest common. Recent studies have dated about 4000 years ago, but it remains controversial whether a Near-Eastern or Moroccan-Berber ancestral origin. To decipher this...
The Coronavirus Disease 2019 (COVID-19) pandemic has led to significant global morbidity and mortality. Understanding the genetic factors that influence disease outcomes can provide critical insights into pathogenesis potential therapeutic targets.
Charcot-Marie-Tooth disease is a genetically heterogeneous group of hereditary motor and sensory neuropathies. Three loci for the axonal autosomal recessive subgroup (ARCMT2) have been reported in 1q21 (CMT2B1, LMNA), 8q21 (CMT4A CMT2K, GDAP1) 19q13 (CMT2B2). We report here clinical, electrophysiological, pathological genetic study 13 Moroccan families with ARCMT2 phenotypes. Clinical electrophysiological examinations were performed all index cases 64 'at-risk' relatives. Thirty-one patients...
During the last two decades, 15 different genes have been reported to be responsible for monogenic form of Parkinson's disease (PD), representing a worldwide frequency 5-10%. Among them, 10 associated with autosomal recessive PD, PRKN and PINK1 being most frequent. In cohort 145 unrelated Moroccan PD patients enrolled since 2013, 19 were born from consanguineous marriage, which isolated cases 4 familial. One patient was homozygous common LRRK2 G2019S mutation 18 others who did not carry this...