11 results on '"Quijano-Roy, S."'
Search Results
2. New morphologic and genetic findings in cap disease associated with -tropomyosin (TPM2) mutations
- Author
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Ohlsson, M., primary, Quijano-Roy, S., additional, Darin, N., additional, Brochier, G., additional, Lacene, E., additional, Avila-Smirnow, D., additional, Fardeau, M., additional, Oldfors, A., additional, and Tajsharghi, H., additional
- Published
- 2008
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3. New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation
- Author
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Yanagisawa, A., primary, Bouchet, C., additional, Van den Bergh, P.Y.K., additional, Cuisset, J. -M., additional, Viollet, L., additional, Leturcq, F., additional, Romero, N. B., additional, Quijano-Roy, S., additional, Fardeau, M., additional, Seta, N., additional, and Guicheney, P., additional
- Published
- 2007
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4. New morphologic and genetic findings in cap disease associated with ß-tropomyosin (TPM2) mutations.
- Author
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Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D, Fardeau M, Oldfors A, and Tajsharghi H
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- 2008
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5. Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French Experience.
- Author
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Molimard A, Gitiaux C, Barnerias C, Audic F, Isapof A, Walther-Louvier U, Cances C, Espil-Taris C, Davion JB, Quijano-Roy S, Grisel C, Chabrol B, and Desguerre I
- Subjects
- Child, Humans, Immunologic Factors adverse effects, Immunosuppressive Agents therapeutic use, Rituximab, Cortisone, Myasthenia Gravis chemically induced, Myasthenia Gravis drug therapy
- Abstract
Background and Objectives: Corticosteroids are the first-line immunosuppressants in the management of juvenile myasthenia gravis despite their adverse effects. The place of new immunosuppressive therapies is not clearly defined by the last international consensus held in March 2019 due to the lack of clinical trials. The aim of this study is to describe the use of rituximab and its efficacy and safety in 8 main pediatric centers of the French neuromuscular reference network to propose a new place in the therapeutic strategy of juvenile myasthenia gravis., Methods: We conducted a retrospective multicenter study from January 1, 2009, to April 30, 2020, including a large cohort of children with myasthenia gravis in 8 main French pediatric reference centers of the FILNEMUS network. The type of myasthenia, different lines of immunosuppressive treatment, and clinical course of the patients were collected. To evaluate the efficacy of rituximab, we studied the clinical course of patients on immunosuppressive therapy. Outcome was defined as the clinical and therapeutic status of patients at the last visit: stable without immunosuppressants, stable with immunosuppressants, or unstable., Results: We included 74 patients: 18 children with ocular form and 56 children with generalized form. Of the 37 patients who required immunosuppressive therapy, 27 were treated with rituximab. Patients treated with rituximab had a better outcome than patients treated with conventional immunosuppressants ( p = 0.006). The use of rituximab as a first-line immunosuppressant showed a better efficacy with a discontinuation of immunosuppressants in 75% of patients (vs 25%, p = 0.04) and results in cortisone sparing (42% vs 92%, p = 0.03) compared with rituximab treatment as a second- or third-line immunosuppression. Rituximab was well tolerated; no adverse effect was observed., Discussion: The use of rituximab has increased in France over the last 10 years as a first-line immunosuppressant. This study suggests good tolerability and efficacy of rituximab in juvenile myasthenia gravis. Early use appears to improve outcomes and facilitate cortisone sparing in antibody-positive generalized juvenile myasthenia., Classification of Evidence: This study provides Class III evidence that for children with MG, rituximab is effective and well tolerated., (© 2022 American Academy of Neurology.)
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- 2022
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6. Asymmetric muscle weakness due to ACTA1 mosaic mutations.
- Author
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Lornage X, Quijano-Roy S, Amthor H, Carlier RY, Monnier N, Deleuze JF, Romero NB, Laporte J, and Böhm J
- Subjects
- Biopsy, Child, Electromyography, Humans, Magnetic Resonance Imaging, Mutation, Missense, Pedigree, Exome Sequencing, Actins genetics, Mosaicism, Muscle Weakness diagnosis, Muscle Weakness genetics, Muscle Weakness physiopathology
- Abstract
Objective: To characterize 2 unrelated patients with either asymmetric or unilateral muscle weakness at the clinical, genetic, histologic, and ultrastructural level., Methods: The patients underwent thorough clinical examination, whole-body MRI, and exome sequencing. Muscle morphology was assessed by histology and electron microscopy., Results: Both patients presented with early-onset hypotonia, delayed motor milestones, scoliosis, and reduced pulmonary function. Patient P1 manifested unilateral muscle weakness exclusively affecting the left side of the body; the asymmetry was less pronounced in patient P2. Muscle biopsies from both patients showed nemaline rods as the main histopathologic hallmark, and MRI revealed major fatty infiltrations in selective head, proximal, and distal muscles, correlating with the degree of muscle weakness asymmetry. Exome sequencing on blood DNA from both patients identified de novo ACTA1 missense mutations in a small number of reads, suggesting mutation mosaicism. Subsequent Sanger sequencing confirmed the presence of the mutations on muscle DNA, while they were barely detectable on blood DNA., Conclusions: De novo mutations can occur anytime during embryonic development and may result in a mosaic pattern of affected cells and tissues and lead to the development of an asymmetric clinical picture. The present study points out that mosaic mutations might not be easily detectable on leukocyte DNA and thereby escape routine genetic analysis, and possibly account for a significant number of molecularly undiagnosed patients., (© 2020 American Academy of Neurology.)
- Published
- 2020
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7. The clinical, histologic, and genotypic spectrum of SEPN1 -related myopathy: A case series.
- Author
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Villar-Quiles RN, von der Hagen M, Métay C, Gonzalez V, Donkervoort S, Bertini E, Castiglioni C, Chaigne D, Colomer J, Cuadrado ML, de Visser M, Desguerre I, Eymard B, Goemans N, Kaindl A, Lagrue E, Lütschg J, Malfatti E, Mayer M, Merlini L, Orlikowski D, Reuner U, Salih MA, Schlotter-Weigel B, Stoetter M, Straub V, Topaloglu H, Urtizberea JA, van der Kooi A, Wilichowski E, Romero NB, Fardeau M, Bönnemann CG, Estournet B, Richard P, Quijano-Roy S, Schara U, and Ferreiro A
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Female, Follow-Up Studies, Humans, Male, Middle Aged, Muscular Diseases pathology, Retrospective Studies, Young Adult, Genotype, Muscle Proteins genetics, Muscular Diseases diagnostic imaging, Muscular Diseases genetics, Selenoproteins genetics
- Abstract
Objective: To clarify the prevalence, long-term natural history, and severity determinants of SEPN1 -related myopathy (SEPN1-RM), we analyzed a large international case series., Methods: Retrospective clinical, histologic, and genetic analysis of 132 pediatric and adult patients (2-58 years) followed up for several decades., Results: The clinical phenotype was marked by severe axial muscle weakness, spinal rigidity, and scoliosis (86.1%, from 8.9 ± 4 years), with relatively preserved limb strength and previously unreported ophthalmoparesis in severe cases. All patients developed respiratory failure (from 10.1±6 years), 81.7% requiring ventilation while ambulant. Histopathologically, 79 muscle biopsies showed large variability, partly determined by site of biopsy and age. Multi-minicores were the most common lesion (59.5%), often associated with mild dystrophic features and occasionally with eosinophilic inclusions. Identification of 65 SEPN1 mutations, including 32 novel ones and the first pathogenic copy number variation, unveiled exon 1 as the main mutational hotspot and revealed the first genotype-phenotype correlations, bi-allelic null mutations being significantly associated with disease severity ( p = 0.017). SEPN1-RM was more severe and progressive than previously thought, leading to loss of ambulation in 10% of cases, systematic functional decline from the end of the third decade, and reduced lifespan even in mild cases. The main prognosis determinants were scoliosis/respiratory management, SEPN1 mutations, and body mass abnormalities, which correlated with disease severity. We propose a set of severity criteria, provide quantitative data for outcome identification, and establish a need for age stratification., Conclusion: Our results inform clinical practice, improving diagnosis and management, and represent a major breakthrough for clinical trial readiness in this not so rare disease., (© 2020 American Academy of Neurology.)
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- 2020
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8. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
- Author
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Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, and Bassez G
- Subjects
- Adolescent, Arrhythmias, Cardiac epidemiology, Arrhythmias, Cardiac etiology, Child, Child, Preschool, Evidence-Based Medicine, Female, Foot Deformities epidemiology, Foot Deformities etiology, France epidemiology, Humans, Infant, Infant, Newborn, Male, Muscle Weakness epidemiology, Muscle Weakness etiology, Myotonic Dystrophy complications, Myotonic Dystrophy epidemiology, Myotonic Dystrophy genetics, Registries, Respiratory Insufficiency epidemiology, Respiratory Insufficiency etiology, Severity of Illness Index, Trinucleotide Repeat Expansion, Arrhythmias, Cardiac physiopathology, Muscle Weakness physiopathology, Myotonic Dystrophy physiopathology, Respiratory Insufficiency physiopathology
- Abstract
Objective: To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide a solid frame of data for future evidence-based health management., Methods: Among the 2,697 patients with genetically confirmed DM1 included in the French DM-Scope registry, children were enrolled between January 2010 and February 2016 from 24 centers. Comprehensive cross-sectional analysis of most relevant qualitative and quantitative variables was performed., Results: We studied 314 children (52% females, with 55% congenital, 31% infantile, 14% juvenile form). The age at inclusion was inversely correlated with the CTG repeat length. The paternal transmission rate was higher than expected, especially in the congenital form (13%). A continuum of highly prevalent neurodevelopmental alterations was observed, including cognitive slowing (83%), attention deficit (64%), written language (64%), and spoken language (63%) disorders. Five percent exhibited autism spectrum disorders. Overall, musculoskeletal impairment was mild. Despite low prevalence, cardiorespiratory impairment could be life-threatening, and frequently occurred early in the first decade (25.9%). Gastrointestinal symptoms (27%) and cataracts (7%) were more frequent than expected, while endocrine or metabolic disorders were scarce., Conclusions: The pedDM-Scope study details the main genotype and phenotype characteristics of the 3 DM1 pediatric subgroups. It highlights striking profiles that could be useful in health care management (including transition into adulthood) and health policy planning., (© 2019 American Academy of Neurology.)
- Published
- 2019
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9. Motor neuropathy contributes to crouching in patients with Dravet syndrome.
- Author
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Gitiaux C, Chemaly N, Quijano-Roy S, Barnerias C, Desguerre I, Hully M, Chiron C, Dulac O, and Nabbout R
- Subjects
- Adolescent, Child, Child, Preschool, Electromyography, Female, Humans, Male, Mutation, Neural Conduction physiology, Epilepsies, Myoclonic genetics, Epilepsies, Myoclonic physiopathology, Gait Disorders, Neurologic physiopathology, Motor Neurons physiology, NAV1.1 Voltage-Gated Sodium Channel genetics
- Abstract
Objective: Since SCN1A is expressed in the motor neuron initial segment, we explored whether motor neuron dysfunction could contribute to gait disturbance and orthopedic misalignment in patients with Dravet syndrome due to SCN1A mutations., Methods: We assessed 12 consecutive patients who presented to our institution between January and March 2013. All of them were older than 2 years and were positive for the SCN1A mutation. We performed nerve conduction velocity studies and needle EMG recordings., Results: We included 4 females and 8 males aged 2 to 17 years (median 7.5 years). All 12 patients showed gait disturbance regardless of age. Tendon reflexes were decreased in 4 of 12 patients. None presented cerebellar signs such as tremor, dysmetria, or adiadochokinesia. Nerve conduction study was normal or nearly normal in all patients, but EMG showed features of chronic denervation. Motor neuropathy/neuronopathy was definite in 7 patients and probable in 3., Conclusions: SCN1A mutations may alter axonal function, causing motor neuropathy/neuronopathy. This may contribute to gait disturbance and orthopedic misalignment, which is characteristic of patients with Dravet syndrome., (© 2016 American Academy of Neurology.)
- Published
- 2016
- Full Text
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10. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations.
- Author
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Ohlsson M, Quijano-Roy S, Darin N, Brochier G, Lacène E, Avila-Smirnow D, Fardeau M, Oldfors A, and Tajsharghi H
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- Adult, Child, DNA Mutational Analysis, Female, Humans, Male, Microscopy, Electron, Transmission, Muscle, Skeletal physiopathology, Muscle, Skeletal ultrastructure, Myopathies, Structural, Congenital physiopathology, NAD metabolism, Photography, Tetrazolium Salts, Muscle, Skeletal pathology, Mutation, Myopathies, Structural, Congenital genetics, Myopathies, Structural, Congenital pathology, Tropomyosin genetics
- Abstract
Objective: Mutations in the beta-tropomyosin gene (TPM2) are a rare cause of congenital myopathies with features of nemaline myopathy and cap disease and may also cause distal arthrogryposis syndromes without major muscle pathology. We describe the muscle biopsy findings in three patients with cap disease and novel heterozygous mutations in TPM2., Methods: Three unrelated patients with congenital myopathy were investigated by muscle biopsy and genetic analysis., Results: All three patients had early-onset muscle weakness of variable severity and distribution. Muscle biopsy demonstrated in all three patients near uniformity of type 1 fibers and an unusual irregular and coarse-meshed intermyofibrillar network. By electron microscopy, the myofibrils were broad and partly split, and the Z lines appeared jagged. In one of the patients caps structures were identified only by electron microscopy, and in one patient they were identified only in a second biopsy at adulthood. Three novel, de novo, heterozygous mutations in TPM2 were identified: a three-base pair deletion in-frame (p.Lys49del), a three-base pair duplication in-frame (p.Gly52dup), and a missense mutation (p.Asn202Lys)., Conclusions: Mutations in TPM2 seem to be a frequent cause of cap disease. Because cap structures may be sparse, other prominent features, such as a coarse-meshed intermyofibrillar network and jagged Z lines, may be clues to correct diagnosis and also indicate that the pathogenesis involves defective assembly of myofilaments.
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- 2008
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11. Benefit of IVIg for long-standing ataxic sensory neuronopathy with Sjögren's syndrome.
- Author
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Burns TM, Quijano-Roy S, and Jones HR
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- Aged, Autoimmune Diseases of the Nervous System genetics, Female, Gait Ataxia therapy, Humans, Male, Middle Aged, Polyneuropathies therapy, Remission Induction, Sensation Disorders therapy, Sjogren's Syndrome complications, Sjogren's Syndrome genetics, Autoimmune Diseases of the Nervous System therapy, Gait Ataxia etiology, Immunoglobulins, Intravenous therapeutic use, Immunosuppressive Agents therapeutic use, Polyneuropathies etiology, Sensation Disorders etiology, Sjogren's Syndrome therapy
- Published
- 2003
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