المؤلفون: Bart C. Jacobs, Pieter A. van Doorn, Peter Van den Bergh, Carina Bunschoten, David R. Cornblath

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, Neurology, Immunology

المصدر: The Lancet. Neurology, Vol. 18, no. 8, p. 784-794 (2019)
Lancet Neurology, 18(8), 784-794. Lancet Publishing Group

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Future studies, Nerve ultrasound, Disease, Subcutaneous immunoglobulin, 03 medical and health sciences, 0302 clinical medicine, Adrenal Cortex Hormones, Immunoglobulin g4, medicine, Humans, Intensive care medicine, Plasma Exchange, Treatment regimen, business.industry, Immunoglobulins, Intravenous, Polyradiculoneuropathy, medicine.disease, Treatment Outcome, 030104 developmental biology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Neurology (clinical), business, 030217 neurology & neurosurgery, After treatment

الوصف: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare and heterogeneous but treatable immune-mediated neuropathy. Nerve conduction studies are considered essential for a definite diagnosis, but poor performance and misinterpretation of the results frequently leads to misdiagnosis. Nerve ultrasound and MRI could be helpful in diagnosis. Whereas typical CIDP is relatively easy to diagnose, atypical variants with distinct phenotypes can be a diagnostic challenge. Intravenous or subcutaneous immunoglobulin, corticosteroids, and plasma exchange are effective treatments, but maintenance treatments are often required for years, and treatment regimens require careful and regular adjustments to avoid undertreatment or overtreatment. Patients who do not improve, or insufficiently improve after treatment, might have specific characteristics related to a distinct disease mechanism caused by immunoglobulin G4 antibodies to nodal or paranodal proteins, and could require alternative treatments. Future studies should focus on curative and individualised treatment regimens to improve the patient's condition and to prevent further nerve damage.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c03562102041e48b98e68f5555bc0d84Test
https://doi.org/10.1016/s1474-4422Test(19)30144-9

المؤلفون: Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover

المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, King‘s College London, Evelina London Children's Hospital, Guy's Hospital [London], University of Cologne, Children’s University Hospital of Geneva [Switzerland], Queen Elizabeth University Hospital (Glasgow), National Hospital for Neurology and Neurosurgery [London, UK], Great Ormond Street Hospital for Children [London] (GOSH), University College of London [London] (UCL), University of New South Wales [Sydney] (UNSW), Westmead Hospital [Sydney], University Hospital Erlangen [Germany], Universitätsklinikum Erlangen [Erlangen], University of Bonn Medical Centre [Bonn], Radboud university [Nijmegen], Rady Children's Hospital, Belfast City Hospital, Royal Belfast Hospital for Sick Children, University of Iowa [Iowa City], University of Göttingen - Georg-August-Universität Göttingen, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon, Saint-Luc University Hospital [Brussels, Belgium], Hospital Universitario 12 de Octubre [Madrid], Université de Paris (UP), Institut de Myologie, 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), King's College Hospital (KCH), MRC Centre for Neuromuscular Diseases [London, UK], University Hospital Erlangen = Uniklinikum Erlangen, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Gillette Children's Specialty Healthcare [St Paul], Georg-August-University = Georg-August-Universität Göttingen, Ruhr-Universität Bochum [Bochum], Université Paris Cité (UPCité), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)

المصدر: Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Adolescent, Myotonia Congenita, Mutation, Missense, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Extraocular muscles, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Medicine, Missense mutation, Connectin, Child, Myopathy, Aged, Muscle contracture, Genetics, Phenocopy, Original Paper, biology, business.industry, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital myopathy, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, biology.protein, Female, Titin, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

الوصف: Mutations in the sarcomeric protein titin, encoded byTTN, are emerging as a common cause of myopathies. The diagnosis of aTTN-related myopathy is, however, often not straightforward due to clinico-pathological overlap with other myopathies and the prevalence ofTTNvariants in control populations. Here, we present a combined clinico-pathological, genetic and biophysical approach to the diagnosis ofTTN-related myopathies and the pathogenicity ascertainment ofTTNmissense variants. We identified 30 patients with a primaryTTN-related congenital myopathy (CM) and two truncating variants, or one truncating and one missenseTTNvariant, or homozygous for oneTTNmissense variant. We found that TTN-related myopathies show considerable overlap with other myopathies but are strongly suggested by a combination of certain clinico-pathological features. Presentation was typically at birth with the clinical course characterized by variable progression of weakness, contractures, scoliosis and respiratory symptoms but sparing of extraocular muscles. Cardiac involvement depended on the variant position. Our biophysical analyses demonstrated that missense mutations associated with CMs are strongly destabilizing and exert their effect when expressed on a truncating background or in homozygosity. We hypothesise that destabilizingTTNmissense mutations phenocopy truncating variants and are a key pathogenic feature of recessive titinopathies that might be amenable to therapeutic intervention.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432fTest
http://hdl.handle.net/2066/231686Test

المؤلفون: Giuseppe Liistro, William Poncin, Gregory Reychler, Nicolas Audag, Michel Toussaint, Laure Vandervelde, Christophe Goubau, Peter Van den Bergh

المساهمون: UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, UCL - (SLuc) Département de pédiatrie, UCL - (SLuc) Service de pneumologie

المصدر: Muscle & nerve, Vol. 64, no.3, p. 277-284 (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Physiology, neuromuscular diseases, 030105 genetics & heredity, Myotonic dystrophy, Severity of Illness Index, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Surveys and Questionnaires, medicine, otorhinolaryngologic diseases, Humans, Mass Screening, In patient, Amyotrophic lateral sclerosis, Adult patients, business.industry, Medical record, screening, Sydney Swallow Questionnaire, Neuromuscular Diseases, Middle Aged, medicine.disease, Sydney swallow questionnaire, Dysphagia, oropharyngeal dysphagia, Deglutition, Female, Neurology (clinical), medicine.symptom, business, Deglutition Disorders, 030217 neurology & neurosurgery, Oropharyngeal dysphagia

الوصف: Introduction/aims Oropharyngeal dysphagia is common in patients with neuromuscular diseases (NMDs). Its early recognition is vital for proper management. We tested a large cohort of adult NMD patients for oropharyngeal dysphagia using the Sydney Swallow Questionnaire (SSQ). We also looked for possible differences in characteristics of oropharyngeal dysphagia in various NMD groups and diseases. Finally, we compared results of this screening with those from their corresponding medical records for eventual "clinical history" of dysphagia. Methods We asked patients to fill in the SSQ during follow-up outpatient visits at our neuromuscular reference center. A total score above the cutoff score of 118.5 out of 1700 was indicative of oropharyngeal dysphagia. Results Of the 304 adult patients assessed for eligibility, 201 NMD patients (96 women and 105 men, aged 49.0 ± 16.2 years) were included and tested in this study. Oropharyngeal dysphagia was detected in 45% of all the NMD patients when using the SSQ, whereas only 12% had a positive medical record for dysphagia. The median SSQ scores for patients with myotonic syndromes (including myotonic dystrophy type 1), with amyotrophic lateral sclerosis, and with facioscapulohumeral dystrophy were above the cutoff score. The SSQ scores obtained revealed distinct oropharyngeal dysphagia characteristics in the different NMD groups and diseases. Discussion The SSQ tests positively for oropharyngeal dysphagia in a higher proportion of NMD patients compared with their medical records. The distinct oropharyngeal dysphagia characteristics we revealed in different NMD groups and diseases may help to elaborate adapted clinical approaches in the management of oropharyngeal dysphagia.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ecc095dbbc63fbabac183840085373dTest
https://hdl.handle.net/2078.1/260933Test

المؤلفون: Aude-Marie Grapperon, Guillaume Nicolas, Peter Van den Bergh, John L. Woodard, Jean-Marc Raymackers, Claure Michel, F Piéret, Yusuf A. Rajabally, Shahram Attarian, Emilien Delmont, P. Jacquerye, Marion Brisset, Céline Redant, Vinciane Van Parijs, Julien Cassereau, Donatienne Verougstraete

المصدر: Muscle & Nerve. 58:23-28

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Disease onset, Guillain-Barre syndrome, Physiology, business.industry, Polyradiculoneuropathy, medicine.disease, Acute motor axonal neuropathy, Pathophysiology, 3. Good health, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Muscle nerve, Electrodiagnostic testing, Physiology (medical), Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصف: Introduction There is uncertainty as to whether the Guillain-Barre syndrome (GBS) subtypes, acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and acute motor axonal neuropathy (AMAN), can be diagnosed electrophysiologically. Methods We prospectively included 58 GBS patients. Electrodiagnostic testing (EDX) was performed at means of 5 and 33 days after disease onset. Two traditional and one recent criteria sets were used to classify studies as demyelinating or axonal. Results were correlated with anti-ganglioside antibodies and reversible conduction failure (RCF). Results No classification shifts were observed, but more patients were classified as axonal with recent criteria. RCF and anti-ganglioside antibodies were present in both subtypes, more frequently in the axonal subtype. Discussion Serial EDX has no effect on GBS subtype proportions. The absence of exclusive correlation with RCF and anti-ganglioside antibodies may challenge the concept of demyelinating and axonal GBS subtypes based upon electrophysiological criteria. Frequent RCF indicates that nodal/paranodal alterations may represent the main pathophysiology. Muscle Nerve, 2018.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::32de6d18d33b753e63b6973bc50042b4Test
https://doi.org/10.1002/mus.26056Test

المؤلفون: Filip Eftimov, Carina Bunschoten, Yusuf Rajabally, Luis Querol, Max E. Adrichem, Jeffrey Allen, Jean-Cristophe Antoine, Ivana Basta, Peter Van den Bergh, Patricia Blomkwist-Markens, Alexandra Breukel, David Cornblath, Kathrin Doppler, Stephan Goedee, Robert Hadden, Thomas Harbo, Fu Liong Hiew, Bart C. Jacobs, Helmar Lehmann, Michael P. Lunn, Ingemar S.J. Merkies, Eduardo Nobile-Orazio, Stephen Reddel, Jean-Michel Vallat, Antonino Uncini

المصدر: Neuromuscular Disorders. 28:178-184

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, International standard, MEDLINE, Biobank, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Diagnostic data, Medical physics, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)

الوصف: • International CIDP registries were compared to assess infrastructure and collected clinical data, diagnostic data and biomaterials to enhance future research and improve standards of care in CIDP.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7db5408b7c5415bca8ab708876a9936fTest
https://doi.org/10.1016/j.nmd.2017.10.009Test

المؤلفون: Mariëlle H.J. Pruppers, Ingemar S.J. Merkies, Michael P.T. Lunn, Nicolette C. Notermans, Peter van den Bergh, Patricia Blomkwist-Markens, David Cornblath, Shirley D'Sa, Catharina Faber, Stephan Goedee, Ken Gorson, Jean-Marc Léger, Richard Lewis, Michael Lunn, Lou Mazawey, Ingemar Merkies, Eduardo Nobile-Orazio, Nicolette Notermans, Luca Padua, Ludo van der Pol, Mariëlle Pruppers, Louis Querol, Andreas Steck, Hugh Willison

المصدر: Neuromuscular Disorders. 27:1065-1072

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Anti-MAG peripheral neuropathy, Outcome measures, Future assessment, Clinical neurology, 03 medical and health sciences, Monoclonal gammopathy, 030104 developmental biology, 0302 clinical medicine, Neurology, Family medicine, Pediatrics, Perinatology and Child Health, Demyelinating neuropathy, Medicine, Neurology (clinical), medicine.symptom, business, WALDENSTROMS MACROGLOBULINEMIA, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c6577ac8e785f3a6a6ac3608be6f1c79Test
https://doi.org/10.1016/j.nmd.2017.08.001Test

المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

الوصف: Background: Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins of which typically modulate the binding of α-dystroglycan to extracellular matrix ligands by altering its glycosylation. This results in a disruption of the structural integrity of the myocyte, ultimately leading to muscle degeneration. Methods: Deep phenotypic information was gathered using the PhenoTips online software for 1001 patients with unexplained limb-girdle muscle weakness from 43 different centres across 21 European and Middle Eastern countries. Whole-exome sequencing with at least 250ng DNA was completed using an Illumina exome capture and a 38Mb baited target. Genes known to be associated with dystroglycanopathies were analysed for disease-causing variants. Results: Suspected pathogenic variants were detected in DPM3, ISPD, POMT1 and FKTN in one patient each, in POMK in two patients, in GMPPB in three patients, in FKRP in eight patients and in POMT2 in ten patients. This indicated a frequency of 2.7% for the disease group within the cohort of 1001 patients with unexplained limb-girdle muscle weakness. The phenotypes of the 27 patients were highly variable, yet with a fundamental presentation of proximal muscle weakness and elevated serum creatine kinase. Conclusions: Overall, we have identified 27 patients with suspected pathogenic variants in dystroglycanopathy-associated genes. We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases.
SCOPUS: ar.j
info:eu-repo/semantics/published

وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

المؤلفون: Benoit Kabamba, Michela Bisciglia, Thierry Duprez, Peter Van den Bergh, Adrian Ivanoiu

المصدر: Acta Neurologica Belgica. 117:555-557

مصطلحات موضوعية: 0301 basic medicine, Brachial Plexus Neuritis, Neuralgic amyotrophy, medicine.medical_specialty, Neurology, medicine.diagnostic_test, Gabapentin, business.industry, Magnetic resonance imaging, General Medicine, medicine.disease_cause, Hepatitis E, medicine.disease, Virology, Dermatology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Hepatitis E virus, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Neuroradiology, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a7d34ab2842c554c496c5482953eabeTest
https://doi.org/10.1007/s13760-016-0642-1Test