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1. A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

Author

Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Pascale Richard, Evelyne Goillot, Ruth Herbst, Karen Gaudon, Caroline Huzé, Laurent Schaeffer, Yuji Yamanashi, Osamu Higuchi, Antoine Taly, Jeanine Koenig, Jean-Paul Leroy, Fayçal Hentati, Hossein Najmabadi, Kimia Kahrizi, Manouchehr Ilkhani, Michel Fardeau, Bruno Eymard, and Daniel Hantaï

Subjects
Medicine, Science
Abstract

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). We report here an Iranian patient in whom CMS was diagnosed since he presented with congenital and fluctuating bilateral symmetric ptosis, upward gaze palsy and slowly progressive muscle weakness leading to loss of ambulation. Genetic analysis of the patient revealed a homozygous missense mutation c.2503A>G in the coding sequence of MUSK leading to the p.Met835Val substitution. The mutation was inherited from the two parents who were heterozygous according to the notion of consanguinity. Immunocytochemical and electron microscopy studies of biopsied deltoid muscle showed dramatic changes in pre- and post-synaptic elements of the NMJs. These changes induced a process of denervation/reinnervation in native NMJs and the formation, by an adaptive mechanism, of newly formed and ectopic NMJs. Aberrant axonal outgrowth, decreased nerve terminal ramification and nodal axonal sprouting were also noted. In vivo electroporation of the mutated MuSK in a mouse model showed disorganized NMJs and aberrant axonal growth reproducing a phenotype similar to that observed in the patient's biopsy specimen. In vitro experiments showed that the mutation alters agrin-dependent acetylcholine receptor aggregation, causes a constitutive activation of MuSK and a decrease in its agrin- and Dok-7-dependent phosphorylation.

Published
2013
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2. Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia.

Author

Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Pascale Richard, Evelyne Goillot, Ruth Herbst, Karen Gaudon, Caroline Huzé, Laurent Schaeffer, Yuji Yamanashi, Osamu Higuchi, Antoine Taly, Jeanine Koenig, Jean-Paul Leroy, Fayçal Hentati, Hossein Najmabadi, Kimia Kahrizi, Manouchehr Ilkhani, Michel Fardeau, Bruno Eymard, and Daniel Hantaï

Subjects
Medicine, Science
Published
2013
Full Text
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3. Myasthenia Gravis Development and Crisis Subsequent to Multiple Sclerosis

Author

Kurosh Gharagozli, Maziar Shojaei, Ali Amini Harandi, Nayyereh Akbari, and Manouchehr Ilkhani

Subjects
Medicine
Abstract

During the last decade, sporadic combination of multiple sclerosis (MS) and myasthenia gravis (MG) has been reported repeatedly. Although these are anecdotal, they are important enough to raise concerns about co-occurrence of MG and MS. Here, we present a case of an MS patient who developed an MG crisis. She had received interferon for relapsing remitting MS. Interestingly, she developed an MG crisis 4 years after the diagnosis of MS. MS and MG have relatively the same distribution for age, corresponding to the younger peak of the bimodal age distribution in MG. They also share some HLA typing characteristics. Furthermore, some evidences support the role of systemic immune dysregulation due to a genetic susceptibility that is common to these two diseases. The association may be underdiagnosed because of the possible overlap of symptoms especially bulbar manifestations in which either MG or MS can mimic each other, leading to underestimating incidence of the combination. The evidence warrants physicians, especially neurologists, to always consider the possibility of the other disease when encountering any patients either with MS or MG. Anecdotal and sporadic reports of combination of multiple sclerosis (MS) and myasthenia gravis (MG) have been raised concerns about co-occurrence of them.

Published
2011
Full Text
View/download PDF

4. Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Author

Osamu Higuchi, Pascale Richard, Jeanine Koenig, Asma Ben Ammar, Daniel Hantaï, K. Gaudon, Hossein Najmabadi, Kimia Kahrizi, Antoine Taly, Manouchehr Ilkhani, Yuji Yamanashi, Evelyne Goillot, Caroline Huzé, Bruno Eymard, Michel Fardeau, Ruth Herbst, Fayçal Hentati, Payam Soltanzadeh, S. Bauche, Jean-Paul Leroy, and Laurent Schaeffer

Subjects
0303 health sciences, Multidisciplinary, Agrin, business.industry, Science, lcsh:R, Correction, lcsh:Medicine, Congenital myasthenia, 03 medical and health sciences, 0302 clinical medicine, Mutation (genetic algorithm), Medicine, lcsh:Q, Theology, business, lcsh:Science, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

The following information was missing from the funding section: Austrian Science Fund ({"type":"entrez-protein","attrs":{"text":"P21667","term_id":"122622","term_text":"P21667"}}P21667-B09).

Published
2013

5. A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Author

Jeanine Koenig, Osamu Higuchi, Antoine Taly, Laurent Schaeffer, K. Gaudon, Asma Ben Ammar, Yuji Yamanashi, Pascale Richard, Kimia Kahrizi, Jean-Paul Leroy, Hossein Najmabadi, Daniel Hantaï, Evelyne Goillot, Fayçal Hentati, Bruno Eymard, Ruth Herbst, Caroline Huzé, Michel Fardeau, Payam Soltanzadeh, S. Bauche, Manouchehr Ilkhani, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire de Neurobiologie Moléculaire et Neuropathologie, Université de Tunis El Manar (UTM), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Laboratoire de Biologie Moléculaire de la Cellule (LBMC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Center for Brain Research, Medizinische Universität Wien = Medical University of Vienna, The University of Tokyo (UTokyo), Conception et application de molécules bioactives (CAMB), Université de Strasbourg (UNISTRA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Genetics Research Center, University of Social Welfare and Rehabilitation Sciences [Tehran], Department of Neurology, Shahid Beheshti University of Medical Sciences [Tehran] (SBUMS), Shahid Beheshti University-Shahid Beheshti University, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance Publique-Hopitaux de Paris [PHRC AOM 1036], Reseaux Inserm, ANR-Maladies Rares [ANR-07-MRAR-001], Association Francaise contre les Myopathies (AFM), Comite Mixte Franco-Tunisien pour la Cooperation Universitaire (CMCU Project) [05G0809], AFM, Contrat hospitalier de recherche translationnelle AP-HP Inserm, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Department of Cancer Biology, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA), Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Center for Brain Research [Vienna, Austria], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL UPMC, Gestionnaire, École Pratique des Hautes Études (EPHE), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Génétique, pharmacologie et physiopathologie des maladies cardiovasculaires, and Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, Anatomy and Physiology, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Neuromuscular transmission, Muscle Proteins, lcsh:Medicine, Synaptic Transmission, Biochemistry, Mice, 0302 clinical medicine, Neurobiology of Disease and Regeneration, Missense mutation, Receptors, Cholinergic, Child, lcsh:Science, Denervation, 0303 health sciences, Multidisciplinary, Agrin, Muscle Weakness, Neurochemistry, Neuromuscular Diseases, medicine.anatomical_structure, Neurology, Medicine, medicine.symptom, Neurochemicals, Reinnervation, Signal Transduction, Research Article, medicine.medical_specialty, animal structures, Mutation, Missense, Neuromuscular Junction, Neurophysiology, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Neuromuscular junction, Neurological System, 03 medical and health sciences, Genetic Mutation, Internal medicine, medicine, Genetics, Animals, Humans, Receptors, Growth Factor, Muscle, Skeletal, 030304 developmental biology, Acetylcholine receptor, Myasthenic Syndromes, Congenital, Motor Systems, lcsh:R, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Muscle weakness, Receptor Protein-Tyrosine Kinases, Proteins, Acetylcholine, Endocrinology, HEK293 Cells, nervous system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Acetylcholine Receptors, Cellular Neuroscience, lcsh:Q, 030217 neurology & neurosurgery, Neuroscience
Abstract

International audience; Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). We report here an Iranian patient in whom CMS was diagnosed since he presented with congenital and fluctuating bilateral symmetric ptosis, upward gaze palsy and slowly progressive muscle weakness leading to loss of ambulation. Genetic analysis of the patient revealed a homozygous missense mutation c.2503A.G in the coding sequence of MUSK leading to the p.Met835Val substitution. The mutation was inherited from the two parents who were heterozygous according to the notion of consanguinity. Immunocytochemical and electron microscopy studies of biopsied deltoid muscle showed dramatic changes in pre-and post-synaptic elements of the NMJs. These changes induced a process of denervation/reinnervation in native NMJs and the formation, by an adaptive mechanism, of newly formed and ectopic NMJs. Aberrant axonal outgrowth, decreased nerve terminal ramification and nodal axonal sprouting were also noted. In vivo electroporation of the mutated MuSK in a mouse model showed disorganized NMJs and aberrant axonal growth reproducing a phenotype similar to that observed in the patient's biopsy specimen. In vitro experiments showed that the mutation alters agrin-dependent acetylcholine receptor aggregation, causes a constitutive activation of MuSK and a decrease in its agrin-and Dok-7-dependent phosphorylation.

Published
2013

6. Myasthenia Gravis Development and Crisis Subsequent to Multiple Sclerosis

Author

Ali Amini Harandi, Kurosh Gharagozli, Manouchehr Ilkhani, Maziar Shojaei, and Nayyereh Akbari

Subjects
Pediatrics, medicine.medical_specialty, Pathology, business.industry, Incidence (epidemiology), Multiple sclerosis, lcsh:R, lcsh:Medicine, Case Report, General Medicine, Disease, Human leukocyte antigen, Immune dysregulation, medicine.disease, medicine.disease_cause, Myasthenia gravis, medicine, Genetic predisposition, Age distribution, business
Abstract

During the last decade, sporadic combination of multiple sclerosis (MS) and myasthenia gravis (MG) has been reported repeatedly. Although these are anecdotal, they are important enough to raise concerns about co-occurrence of MG and MS. Here, we present a case of an MS patient who developed an MG crisis. She had received interferon for relapsing remitting MS. Interestingly, she developed an MG crisis 4 years after the diagnosis of MS. MS and MG have relatively the same distribution for age, corresponding to the younger peak of the bimodal age distribution in MG. They also share some HLA typing characteristics. Furthermore, some evidences support the role of systemic immune dysregulation due to a genetic susceptibility that is common to these two diseases. The association may be underdiagnosed because of the possible overlap of symptoms especially bulbar manifestations in which either MG or MS can mimic each other, leading to underestimating incidence of the combination. The evidence warrants physicians, especially neurologists, to always consider the possibility of the other disease when encountering any patients either with MS or MG. Anecdotal and sporadic reports of combination of multiple sclerosis (MS) and myasthenia gravis (MG) have been raised concerns about co-occurrence of them.

Published
2011

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