Publications by authors named "Ilham Slassi"

27 Publications

  • Page 1 of 1

Hemodialysis-Related Headache: still a challenge in 2020? Effect of conventional versus online hemodiafiltration from a study in Casablanca-Morocco.

Artif Organs 2020 Dec 16. Epub 2020 Dec 16.

Mohamed VI University of Health Sciences, Faculty of Medicine, Cheikh Khalifa Ibn Zayed hospital, Neurology department, Casablanca, Morocco.

Background: Hemodialysis-related headache (HRH) is a well-known clinical event. It is considered as one of the most commonly reported neurological symptoms among hemodialysis patients. Its epidemiological, physiological, clinical and therapeutic data remain scarce and are poorly studied.

Objectives: To determine the frequency of HRH in the region of Casablanca-Morocco, describe its clinical characteristics and explore the hypothesis that renal replacement technics, such as conventional versus online hemodiafiltration may have an association on clinical adverse effects like HRH.

Methods: A descriptive, cross-sectional and multicentric study was carried out among 100 chronic hemodialysis patients for at least 6 months. HRH was defined according to criteria published by the International Classification of Headache Disorder third edition beta version (ICHD3β) [1]. Two different HD-modalities (standard HD and OL-HDF) have been investigated in order to explore their impact on HRH.

Results: Headache was reported by 60% of the patients including 41,6 % of Hemodialysis-related headache. HRH had on average a duration of 7,4 hours, pulsatile among 38% of interviewed patients and of moderate intensity in 48% of cases. In total, 51,3% of patients undergoing conventional hemodialysis modality reported HRH compared to 12,5% undergoing online hemodiafiltration technic (OL-HDF) (p = 0,008).

Conclusion: Hemodialysis-related headache remains a poorly studied clinical event despite its high prevalence. Its diagnosis, management and especially its prevention remain a challenge for the neurologist and the nephrologist. Our results suggest that OL-HDF is a promising therapeutic and preventive tool to reduce the incidence of HRH.
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http://dx.doi.org/10.1111/aor.13886DOI Listing
December 2020

COVID-19 pandemic and management of patients with chronic neurological conditions in low-middle income countries: the added burden.

Pan Afr Med J 2020 6;35(Suppl 2):104. Epub 2020 Jul 6.

Mohamed VI University of Health Sciences, Faculty of Medicine, Cheikh Khalifa Ibn Zayed hospital, Neurology Department, Casablanca, Morocco.

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http://dx.doi.org/10.11604/pamj.supp.2020.35.2.24186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7687466PMC
January 2021

SARS-CoV2 disease seen through the prism of acutely decompensated chronic kidney disease and ischemic stroke: What lesson we have learned from using prophylaxis therapy of vascular thromboembolism?

Clin Case Rep 2020 Oct 7. Epub 2020 Oct 7.

Anesthesiology-Reanimation Cheikh Khalifa Ibn Zayed hospital Mohammed VI University of Health Sciences Casablanca Morocco.

Our case underlines the tight management of antithrombotic therapy in the context of acutely decompensated chronic kidney disease, ischemic stroke, and SARS-CoV2 infection, the development of stroke as a SARS-CoV2 complication increase the chances of adverse outcomes that may be mitigated by a rapid recognition and institution of available treatments.
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http://dx.doi.org/10.1002/ccr3.3385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7675693PMC
October 2020

Immune Reconstitution Therapy or Continuous Immunosuppression for the Management of Active Relapsing-Remitting Multiple Sclerosis Patients? A Narrative Review.

Neurol Ther 2020 Jun 15;9(1):55-66. Epub 2020 Apr 15.

Danish Multiple Sclerosis Center, University of Copenhagen-Rigshospitalet, Copenhagen, Denmark.

The majority of disease-modifying drugs (DMDs) available for the management of active relapsing-remitting multiple sclerosis (RMS) depend on continuous drug intake for maintained efficacy, with escalation to a more active drug when an unacceptable level of disease activity returns. Among continuously applied regimens, interferons and glatiramer acetate act as immunomodulators, while dimethyl fumarate, fingolimod, ocrelizumab, natalizumab and teriflunomide are associated with continuous immunosuppression. By contrast, immune reconstitution therapy (IRT) provides efficacy that outlasts a short course of treatment. Autologous hemopoietic stem cell transplantation is perhaps the classic example of IRT, but this invasive and intensive therapy has challenging side-effects. A short treatment course of a pharmacologic agent hypothesized to act as an IRT, such as Cladribine Tablets 3.5 mg/kg or alemtuzumab, can provide long-term suppression of MS disease activity, without need for continuous treatment (the anti-CD20 mechanism of ocrelizumab has the potential to act as an IRT, but is administered continuously, at 6-monthly intervals). Cladribine Tablets 3.5 mg/kg shows some selectivity in targeting adaptive immunity with a lesser effect on innate immunity. The introduction of IRT-like disease-modifying drugs (DMDs) challenges the traditional maintenance/escalation mode of treatment and raises new questions about how disease activity is measured. In this review, we consider a modern classification of DMDs for MS and its implications for the care of patients in the IRT era.
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http://dx.doi.org/10.1007/s40120-020-00187-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229056PMC
June 2020

Clinical course of neuromyelitis optica spectrum disorder in a moroccan cohort.

Mult Scler Relat Disord 2019 May 10;30:141-148. Epub 2019 Feb 10.

Department of Neurology, Ibn Rochd University Hospital and Hassan II University, Faculty of Medicine and Pharmacy, Address: 1, quartier des hôpitaux, 20100 Casablanca, Morocco.

Background: Neuromyelitis optica spectrum disorder (NMOSD) was suggested to be more frequent and have specific features among populations from Africa or North Africa. However, we could not find any large study about NMOSD in an African population in the medical literature.

Objectives: To describe the characteristics of NMOSD in a Moroccan monocenter population.

Patients And Methods: A retrospective study was conducted. Patients fromJanuary 1999 to December 2015 fulfilling the 2015 International Consensus Criteria for NMOSD were included.

Results: Sixty four patients fulfilled the criteria. Mean age at onset was 35.7 ± 10.7 years, and the sex ratio was 1/3.57. First clinical event was represented by optic neuritis (38.1%), followed by myelitis (27.0%) and a Devic's syndrome (17.2%). Mean annualized relapse rate was 1.07 ± 1.23 and mean EDSS at last visit was 5.1 ± 2.8. Aquaporine 4 antibodies were positive in 47.1%. Brain lesions were found in 71.2%. Most patients (76.6%) received disease-modifying therapy, mainly cyclophosphamide (86.0%) and 49% remained relapse-free after treatment initiation CONCLUSION: Data from our study suggest more similarities between North African NMOSD patients and non-Caucasian populations. More studies are needed to assess other pathological patterns and compare disease course to other populations.
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http://dx.doi.org/10.1016/j.msard.2019.02.012DOI Listing
May 2019

Biomarkers for Alzheimer Disease: Classical and Novel Candidates' Review.

Neuroscience 2018 02 17;370:181-190. Epub 2017 Jul 17.

Hassan II University of Casablanca, Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy, B.P: 9154, Morocco.

The biomarkers may be useful for predictive diagnosis of Alzheimer's disease (AD). The current challenge is to diagnose it in its preclinical phase. The combination of cerebrospinal fluid (CSF) biomarkers and imaging has been investigated extensively for a number of years. It can provide an increased diagnostic accuracy. This review discusses the contribution of classical biomarkers to predict AD and highlights novel candidates identified as potential markers for AD. We referred to the electronic databases PubMed/Medline and Web of Science to search for articles that were published until February 2016. Sixty-two records were included in qualitative synthesis. In the first section, the results show the contribution of biomarkers to predict and track AD considered as classical biomarkers. In the second section, the results highlight the involvement of novel candidates that should be considered for future evaluation in the characterization of the AD progression. Reported findings open prospect to define noninvasive biomarkers to predict AD before symptoms onset.
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http://dx.doi.org/10.1016/j.neuroscience.2017.07.017DOI Listing
February 2018

Assessment of GAPDH expression by quantitative real time PCR in blood of Moroccan AD cases.

J Clin Neurosci 2017 Jun 10;40:24-26. Epub 2017 Jan 10.

Laboratory of Physiology and Molecular Genetics, Faculty of Sciences Aïn Chock, Hassan II University, Casablanca, Morocco.

Introduction: Neuroproteomics studies have showed the high affinity interactions between GAPDH - β-amyloid in Alzheimer disease. The aim of our study is to complete our previous studies by assessing the mechanism responsible of decreased expression of GAPDH protein in the blood of Moroccan AD cases probably due to an alteration at the transcriptional level or at the post translational level.

Methods: The mRNA expression of GAPDH was assessed by quantitative real time PCR in AD cases and healthy controls.

Results: Our result revealed a significant difference of mRNA expression level of GAPDH in AD cases as compared to healthy controls (P<0.05).

Conclusion: This data is consistent with several studies by showing the direct involvement of GAPDH in amyloid aggregation by undergoing several modifications, which influence its chemical structure and its biological activity.
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http://dx.doi.org/10.1016/j.jocn.2016.12.007DOI Listing
June 2017

Genetic Aspects of Myoclonus-Dystonia Syndrome (MDS).

Mol Neurobiol 2017 03 20;54(2):939-942. Epub 2016 Jan 20.

Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy Hassan II University of Casablanca, Casablanca, Morocco.

Myoclonus-dystonia (M-D) is an autosomal-dominant movement disorder with onset in the first two decades of life. Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21-q31 represent the major genetic cause of M-D in some populations. The syndrome was related with mutations in two other genes (DRD2 and DYT1). A second locus has been reported in one large M-D family (DYT15, 18p11), but no gene has been identified yet. In this review, we discuss genetic aspects of myoclonus-dystonia.
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http://dx.doi.org/10.1007/s12035-016-9712-xDOI Listing
March 2017

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report.

BMC Neurol 2015 Nov 25;15:244. Epub 2015 Nov 25.

Genetics and Molecular Pathology Laboratory, Medical school of Casablanca, Hassan II University, Casablanca, Morocco.

Background: X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain fatty acids (VLCFAs). Dysfunction of ALDP induces an accumulation of VLCFAs in all tissues leading to a neurodegenerative disorder that involves the nervous system white matter.

Case Presentation: In our case report, magnetic resonance imaging (MRI) as well as the high levels of VLCFAs prompted the diagnosis the X-ALD. Molecular analysis of ABCD1 gene have shown a pathogenic homozygous nonsense mutation (c.1677C > G; p.(Tyr559*)) in exon 7.

Conclusion: Thus, we identified here a novel mutation in the ABCD1 gene in a Moroccan patient causing X-linked adrenoleukodystrophy.
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http://dx.doi.org/10.1186/s12883-015-0503-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660798PMC
November 2015

G894T endothelial nitric oxide synthase polymorphism and ischemic stroke in Morocco.

Meta Gene 2014 Dec 7;2:349-57. Epub 2014 May 7.

Department of Genetic and Molecular Pathology Laboratory (LGPM), Faculty of Medicine and Pharmacy, Hassan II University, 9154 Casablanca, Morocco.

Nitric oxide plays a major role in the regulation of cerebral blood flow and loss of its function leads to alteration of the vascular relaxation given its central role in the physiology of the vascular system. G894T eNOS polymorphism could have adverse effects on the expression and activity of endothelial nitric oxide synthase, which can result in functional impairment of the endothelium and contribute to the development of ischemic stroke in the different models of transmission. In this study, genotyping with PCR-RFLP and HRM (high resolution melting) methods were conducted on 165 ischemic stroke patients as well as 182 controls. The goal here was to compare genotyping with PCR-RLFP primer sequences of eNOS gene (size < 300 bp) to HRM. Our data suggests a statistically significant association between G894T eNOS polymorphism and ischemic stroke in recessive, dominant and additive models with P < 0.05 and odds ratio of 2.68 (1.08-6.70), 1.78 (1.16-2.73), and 1.71 (1.21-2.43) respectively. In sum, although the sample size is relatively small, it suggests that G894T eNOS polymorphism could be a potentially important genetic marker of ischemic stroke in the Moroccan population. Future studies should be conducted in this direction taking into consideration the functional activity of eNOS.
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http://dx.doi.org/10.1016/j.mgene.2014.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287825PMC
December 2014

Intractable hiccup and vomiting, neuropathic pruritus and tonic spasms in a case of neuromyelitis optica spectrum disorder.

Acta Neurol Belg 2015 Dec 8;115(4):797-9. Epub 2015 Jan 8.

Department of Neurology, Ibn Rochd Universitary Hospital, Casablanca, Morocco.

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http://dx.doi.org/10.1007/s13760-014-0418-4DOI Listing
December 2015

[The usefulness of MRI and MR angiography in the diagnosis of Moyamoya disease in children].

Presse Med 2014 Nov 11;43(11):1287-90. Epub 2014 Jul 11.

CHU Ibn Rochd, service de neurologie-explorations fonctionnelles, 1, rue des Hôpitaux, 20000 Casablanca, Maroc.

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http://dx.doi.org/10.1016/j.lpm.2014.03.026DOI Listing
November 2014

A proteomic approach for the involvement of the GAPDH in Alzheimer disease in the blood of Moroccan FAD cases.

J Mol Neurosci 2014 Dec 15;54(4):774-9. Epub 2014 Jul 15.

Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy, University Hassan II, 19 Rue Tarik Ibnou Ziad, B.P. 9154, Casablanca, 20000, Morocco,

Several articles have highlighted the potential involvement of glyceraldehyde-3-phosphate dehydrogenase (GAPDH) in neurodegeneration by showing a non-glycolytic activity of GAPDH specifically in the brains of subjects with Alzheimer's disease (AD). The novel aim of this study was to elucidate the critical role of GAPDH and its interaction with β-amyloid in the blood of Moroccan patients with familial AD (FAD) carrying presenilin mutations and in sporadic late onset AD (LOAD). Our results show a significant decrease in the activity of GAPDH in blood samples from patients with FAD as compared to sporadic cases and healthy controls. The expression level of GAPDH in brain specimens from mutant tau transgenic mice and patients with FAD was unchanged as compared to healthy controls. In contrast, the expression level of GAPDH in blood samples from mutant tau transgenic mice and patients with FAD was decreased as compared to sporadic cases and healthy controls. Moreover, there is an accumulation of β-amyloid aggregates in the blood samples of patients with FAD and an increase in amyloid fibrils in both the blood and brain samples of these patients. Our study adds new insight to previous ones by showing the involvement of GAPDH in AD, which may influence the pathogenesis of this neurodegenerative disease.
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http://dx.doi.org/10.1007/s12031-014-0374-8DOI Listing
December 2014

Novel mutations in the amyloid precursor protein gene within Moroccan patients with Alzheimer's disease.

J Mol Neurosci 2014 Jun 14;53(2):189-95. Epub 2014 Mar 14.

Laboratory of Medical Genetics and Molecular Pathology, Faculty of Medicine and Pharmacy, University Hassan II, 19 Rue Tarik Ibnou Ziad, B.P. 9154, 20000, Casablanca, Morocco,

In Morocco, Alzheimer's disease (AD) affects almost 30,000 individuals, and this number could increase to 75,000 by 2020. To our knowledge, the genes predisposing individuals to AD and predicting disease incidence remain elusive. In this study, we aimed to evaluate the genetic contribution of mutations in the amyloid precursor protein (APP) gene exons 16 and 17 to familial and sporadic AD cases. Seventeen sporadic cases and eight family cases were seen at the memory clinic of the University of Casablanca Neurology Department. These patients underwent standard somatic neurological examination, cognitive function assessment, brain imaging, and laboratory tests. Direct sequencing of exons 16 and 17 of the APP gene was performed on genomic DNA of AD patients. In this original Moroccan study, we identified seven novel frameshift mutations in exons 16 and 17 of the APP gene. Interestingly, only one novel splice mutation was detected in a family case. There is a strong correlation between clinical symptoms and genetic factors in Moroccan patients with a family history of AD. Therefore, mutations in APP gene exons 16 and 17 may eventually become genetic markers for AD predisposition.
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http://dx.doi.org/10.1007/s12031-014-0278-7DOI Listing
June 2014

Duchenne muscular dystrophy: Advances in molecular appraoch.

Indian J Hum Genet 2013 Jan;19(1):116

Department of Neuropediatrics, Ibn Rochd Hospital, Casablanca, Morocco.

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http://dx.doi.org/10.4103/0971-6866.112931DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722623PMC
January 2013

Chorea paralytica: a videotape case with rapid recovery and good long-term outcome.

Acta Neurol Belg 2013 Dec;113(4):515-7

Chorea paralytica (or chorea mollis) is a very rare variant of Sydenham's chorea, characterized by a profound hypotonia, resulting in severe disability. Given the rarity of this condition, data on its prognosis are lacking. Most reports suggest that the delay from onset to recover total autonomy is long, usually several weeks to months which strongly affects the quality of life of these children. We report a videotape case of a 14-year-old girl, who became rapidly bedridden because of severe generalized chorea paralytica. Her clinical picture was totally improved 7 days only after initiation of an "aggressive" treatment, combining steroid pulse, haloperidol and long-term penicillin G, with no relapse after 4-year follow-up. We believe that the best care of this rare and severe form of Sydenham's chorea, should combine pathophysiological treatment with corticosteroids, preferably by pulse-therapy, symptomatic antichoreic treatment by neuroleptics, associated with a long-term antibiotic use to reduce recurrence risk.
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http://dx.doi.org/10.1007/s13760-013-0214-6DOI Listing
December 2013

Evolution of molecular diagnosis of Duchenne muscular dystrophy.

J Mol Neurosci 2013 Jun 5;50(2):314-6. Epub 2013 Feb 5.

Neuropediatrics Department, Ibn Rochd Hospital, Casablanca, Morocco.

Duchenne muscular dystrophy (DMD) is the commonest of the muscular dystrophies. The DMD gene (DMD) is the biggest human gene and the most common molecular defect in the DMD gene, accounting for approximately 65 % of cases of DMD, is the deletion of one or more exons. The most basic method still in regular use involves multiplex PCR of the exons, known to be most commonly deleted. The multiplex is relatively simple. Quantitative analysis of all exons of the gene and multiplex ligation-dependent probe amplification have brought about an improvement in mutation detection rate, as they will detect all exon scale deletions as well as duplications, widely used to detect exonic and intronic mutations. As a sensitive and discriminative tool, MLPA can be used for prenatal testing. A more recent development in quantitative analysis is the use of oligonucleotide-based array comparative genomic hybridization.
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http://dx.doi.org/10.1007/s12031-013-9971-1DOI Listing
June 2013

Sickle cell disease with double stroke in a Moroccan family.

J Mol Neurosci 2013 Jun 23;50(2):311-3. Epub 2013 Jan 23.

Laboratory of Human Genetics, Faculty of Medicine, University Hospital, Casablanca, Morocco.

The sickle-cell disease is a group of chronic hemolytic diseases which associates three types of injuries: severe anemia, severe infections, and ischemic vaso-occlusive crisis that are secondary to conflicts between small vessels and red blood cells too deformable. Thus, organic various complications may arise. Its prevalence in Europe is estimated to be about 1/150 and reaches 15 % in the Mediterranean areas. Clinical manifestations vary widely from one person to another and from one moment to another. In addition to anemia and bacterial infections, vaso-occlusive crisis may manifest by focal ischemia. In the long term, the VOC may compromise the function of a particular tissue or organ. The transmission is autosomal recessive. The sickle-cell diseases are determined by combinations of two abnormal alleles of beta globin gene including at least one which carries the mutation beta 6 glu-val (Hb S). We report the case of a girl aged 11 years, who presented two strokes in the interval of 8 months, which manifested by a complete right hemiplegia and aphasia confirmed by head CT scan; the electrophoresis of the hemoglobin and the molecular test had confirmed the diagnosis of sickle-cell disease, and we were allowed to spread better reflection on the prevention of stroke, which remains a frequent and serious complication of sickle-cell disease.
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http://dx.doi.org/10.1007/s12031-013-9967-xDOI Listing
June 2013

Prothrombin G20210A and factor V Leiden polymorphisms in stroke.

J Mol Neurosci 2012 Jan 24;46(1):210-6. Epub 2011 Jun 24.

Laboratory of Genetic and Molecular Pathology, Medical School, Hassan II University, 19, rue Tarik-Ibn-Ziad, BP 9154, 10000, Casablanca, Morocco.

The molecular epidemiology of stroke is critically lacking in the developing world. We explored the relationships between genetics polymorphism and risk for ischemic stroke among the residents of Casablanca, Morocco. Ninety-one stroke patients matched 1:2 for their age, gender, and ethnic background to 182 healthy controls who were genotyped for the prothrombin G20210A mutation and factor V (FV) Leiden and were assessed for conventional risk factors for stroke. No significant association was found between prothrombin gene mutation with stroke (p = .054). Regarding stroke subtypes, significant relationships between patients with a large artery disease subtype of stroke and this mutation was found compared to controls (p = .046). As a genetic risk factor to develop this event, a strong association was observed when adjusted for conventional vascular risk factors (adjusted OR, 4.3; p = .029). No FV Leiden was found. We suggest that prothrombin mutation but not FV Leiden should be considered as a modest genetic risk factor for large artery disease stroke subtype in the Moroccan population.
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http://dx.doi.org/10.1007/s12031-011-9580-9DOI Listing
January 2012

Benign myoclonic epilepsy of infancy evolving to Jeavons syndrome.

Pediatr Neurol 2010 Sep;43(3):213-6

Department of Neurology, Al Kortobi Hospital, Tangier, Morocco.

Benign myoclonic epilepsy of infancy is a rare idiopathic generalized epileptic syndrome occurring below the age of 3 years. Although benign outcome is presumed, some recent studies suggest less favorable outcome. A 14-year-old boy had a history of repeated episodes of myoclonic jerks of the shoulders and upper limbs in infancy (age 5 months). An ictal electroencephalogram indicated generalized spike-wave discharges associated with the myoclonic seizures, and the diagnosis of benign myoclonic epilepsy of infancy was made. Valproate treatment resulted in control of the myoclonic seizures, and the drug was withdrawn when the patient was 5 years of age. At the age of 10, he presented with episodes of eyelid jerks associated with brief lapses in concentration triggered by sunlight. Electroencephalography revealed photosensitivity and a pattern of eye-closure sensitivity. These features were compatible with the diagnosis of eyelid myoclonia with absences, or Jeavons syndrome. Lamotrigine eliminated the seizures. The evolution of benign myoclonic epilepsy of infancy to eyelid myoclonia with absences has been reported in one other case. A possible continuum of myoclonic epileptic syndromes, mediated by a common genetic abnormality, suggests the need for longer monitoring of patients with benign myoclonic epilepsy of infancy.
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http://dx.doi.org/10.1016/j.pediatrneurol.2010.05.006DOI Listing
September 2010

A rapid polymerase chain reaction-based test for screening Steinert's disease (DM1).

Neurol India 2010 Jan-Feb;58(1):99-102

Medical Genetic Laboratory and Molecular Pathology, Medical School/Casablanca, Morocco.

Myotonic dystrophy (DM) is a multisystemic neuromuscular disorder caused by a dynamic mutation of (CTG) trinucleotide repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene (DMPK). The aim of the present study was to establish the use of polymerase chain reaction (PCR)-based simple and rapid method for initial sample screening. Only a minority of samples were tested positive with the above method and need to be detected by tri primer (TP)-PCR and Southern blotting which is more time consuming and involves use of radioactive material. This study concerned 24 patients from nine families with a clinical diagnosis of the DM1. DNA extracted from the blood was used for amplification of the triplet repeat sequences at the DMPK loci. We obtained two bands for the normal subjects and one band for patients corresponding to normal DMPK allele, confirmed by the TP-PCR and the Southern blot. This rapid test for initial screening of samples for the presence of DMPK mutations is economical and reliable method. This method reduces the number of samples needing TP-PCR and Southern blotting.
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http://dx.doi.org/10.4103/0028-3886.60411DOI Listing
June 2010

Duchenne and Becker muscular dystrophy: contribution of a molecular and immunohistochemical analysis in diagnosis in Morocco.

J Biomed Biotechnol 2009 19;2009:325210. Epub 2009 May 19.

Genetic and Molecular Pathology Laboratory, Medical School, Hassan II University, 19, rue Tarik-Ibn-Ziad, BP 9154, 10000 Casablanca, Morocco.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually absent; whereas BMD patients have 10% to 40% of the normal amount. Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of immunohistochemical and genetic analysis in the diagnosis of these dystrophies, we present 10 cases of DMD/BMD with particular features. We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination of the quantity and distribution of dystrophin by immunohistochemical staining can confirm the presence of dystrophinopathy and allows differentiation between DMD and BMD, but dystrophin staining is not always conclusive in BMD. Therefore, only identification involved mutation by genetic analysis can establish a correct diagnosis.
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http://dx.doi.org/10.1155/2009/325210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683945PMC
July 2009

Neurological manifestations revealing primitive Gougerot-Sjogren syndrome: 9 cases.

Joint Bone Spine 2009 Mar 12;76(2):139-45. Epub 2009 Feb 12.

Service de Neurologie, Explorations Fonctionnelles, CHU Ibn Rochd, Quartier des Hôpitaux, Casablanca, Maroc.

Introduction: Neurological manifestations in Gougerot-Sjogren syndrome (GSS) are valued differently. This is essentially the achievement of the peripheral nervous system.

Methods: We report 9 cases of neurological manifestation revealing primitive Gougerot-Sjogren syndrome collected over a period of 8 years (1997-2004). GSS diagnosis was retained according to Americano-European group criteria consensus revised on 2002.

Results: All our patients were female with an average age of 43 years. Peripheral nervous system manifestation occurred in 78% (Truncal Neuropathy in 44%, anterior horn involvement in 2 cases). Central nervous system involvement was observed in 55.6% (chronic myelopathy and aseptic meningoencephalitis).

Discussion And Conclusions: The analysis of neurological manifestations in GSS encounters three difficulties: the lack in homogeneity of diagnostic criteria (which makes it difficult to compare the frequency of neurological complications in different series), the limited number of large series, and the cases with neurological manifestations revealing this syndrome.
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http://dx.doi.org/10.1016/j.jbspin.2008.03.010DOI Listing
March 2009

[Cauda equina syndrome leading to diagnosis of malignant non-Hodgkin lymphoma of the spine].

Presse Med 2008 May 16;37(5 Pt 1):787-8. Epub 2008 Jan 16.

Service de neurologie-explorations fonctionnelles, CHU Ibn Rochd, Quartier des Hôpitaux, MA-20000 Casablanca, Maroc.

Introduction: Malignant non-Hodgkin lymphoma is a lymphoid proliferation. Peripheral neuropathies are observed in only 2-8% of cases.

Case: We report a case in which cauda equina syndrome in a 29-year-old man led to the diagnosis of a painless non-Hodgkin lymphoma of the spine. Combined chemotherapy and radiation therapy produced spectacular improvement.

Discussion: Infiltration of the cauda equina roots is rare in malignant non-Hodgkin lymphoma and raises problems for positive diagnosis. The good outcome under treatment underlines the interest in considering this cause in disorders affecting the cauda equina, despite its rarity.
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http://dx.doi.org/10.1016/j.lpm.2007.05.043DOI Listing
May 2008

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Brain 2007 Apr 8;130(Pt 4):1062-75. Epub 2007 Mar 8.

Laboratoire de Neurogénétique, Service de Neurologie B, Hôpital des Spécialités, Rabat, Morocco.

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 and CMT2K, GDAP1) and 19q13 (CMT2B2). We report here a clinical, electrophysiological, pathological and genetic study in 13 Moroccan families with ARCMT2 phenotypes. Clinical and electrophysiological examinations were performed in all index cases and 64 'at-risk' relatives. Thirty-one patients were clinically affected. A peroneal nerve biopsy was obtained from three patients. Four families were linked to the 1q21 locus, all had the LMNA R298C mutation. Six families were linked to the 8q21 locus, all had the GDAP1 S194X mutation. Founder effects for both mutations were suggested by the analysis of microsatellite markers close to the genes. The three remaining families were excluded from the three known loci. The electrophysiological findings were consistent with an axonal neuropathy. The clinical data show that in CMT2B1 the disease began most often in the second decade and progressed gradually from distal to proximal muscles. Three of our patients with the longest disease durations (>24 years) had also severe impairment in the scapular muscles. Reported here for the first time, this might be a hallmark of CMT2B1. Patients with CMT4A/2K had onset most often before the age of 2 years. Most had severe clubfoot from the beginning, one of the hallmarks of CMT4A/2K. None of our patients with CMT4A/2K had vocal cord paralysis. The clinical phenotype of the three families that are not linked to the three known loci presented some particularities that were not seen in those with known genetic defects. One family was characterized by late onset of the disease (>20 years) or a mild neuropathy that was diagnosed only when the family was examined. In a second family, dorsal scoliosis was the most prominent symptom. In the third family, symptoms began in the second decade with a moderate neuropathy associated with a pronounced scoliosis. These families illustrate the extent of clinical and genetic heterogeneity in ARCMT2.
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http://dx.doi.org/10.1093/brain/awm014DOI Listing
April 2007