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3. Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis

Author

Quack, L., Glatter, S., Wegener-Panzer, A., Cleaveland, R., Bertolini, A., Endmayr, V., Seidl, R., Breu, M., Wendel, E., Schimmel, M., Baumann, M., Rauchenzauner, M., Pritsch, M., Boy, N., Muralter, T., Kluger, G., Makoswski, C., Kraus, V., Leiz, S., Loehr-Nilles, C., Kreth, J.H., Braig, S., Schilling, S., Kern, J., Blank, C., Tro Baumann, B., Vieth, S., Wallot, M., Reindl, M., Ringl, H., Wandinger, K.P., Leypoldt, F., Höftberger, R., and Rostásy, K.

Published
2023
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4. Characteristic retinal atrophy pattern allows differentiation between pediatric MOGAD and MS after a single optic neuritis episode

Author

Pakeerathan, T., Havla, J., Schwake, C., Salmen, A., Bigi, S., Abegg, M., Brügger, D., Ferrazzini, T., Runge, A.-K., Breu, M., Kornek, B., Bsteh, G., Felipe-Rucián, A., Ringelstein, M., Aktas, O., Karenfort, M., Wendel, E., Kleiter, I., Hellwig, K., Kümpfel, T., Thiels, C., Lücke, T., Gold, R., Rostasy, K., and Ayzenberg, I.

Published
2022
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5. Nervensystem

Author

Boltshauser, E., Kaindl, A. M., Ipsiroglu, O., Krägeloh-Mann, I., Rostásy, K., Schöning, M., Stöckler-Ipsiroglu, S., Krauß, J., Schweitzer, T., Speer, Christian P., editor, Gahr, Manfred, editor, and Dötsch, Jörg, editor

Published
2019
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8. Treatment of MOG antibody associated disorders: results of an international survey

Author

Whittam, D. H., Karthikeayan, V., Gibbons, E., Kneen, R., Chandratre, S., Ciccarelli, O., Hacohen, Y., de Seze, J., Deiva, K., Hintzen, R. Q., Wildemann, B., Jarius, S., Kleiter, I., Rostasy, K., Huppke, P., Hemmer, B., Paul, F., Aktas, O., Pröbstel, A. K., Arrambide, G., Tintore, M., Amato, M. P., Nosadini, M., Mancardi, M. M., Capobianco, M., Illes, Z., Siva, A., Altintas, A., Akman-Demir, G., Pandit, L., Apiwattankul, M., Hor, J. Y., Viswanathan, S., Qiu, W., Kim, H. J., Nakashima, I., Fujihara, K., Ramanathan, S., Dale, R. C., Boggild, M., Broadley, S., Lana-Peixoto, M. A., Sato, D. K., Tenembaum, S., Cabre, P., Wingerchuk, D. M., Weinshenker, B. G., Greenberg, B., Matiello, M., Klawiter, E. C., Bennett, J. L., Wallach, A. I., Kister, I., Banwell, B. L., Traboulsee, A., Pohl, D., Palace, J., Leite, M. I., Levy, M., Marignier, R., Solomon, T., Lim, M., Huda, S., and Jacob, A.

Published
2020
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9. The Multiple Sclerosis Inventory of Cognition for Adolescents (MUSICADO): A brief screening instrument to assess cognitive dysfunction, fatigue and loss of health-related quality of life in pediatric-onset multiple sclerosis

Author

Kraus, V., Dornfeld, E., Elpers, C., Lohmann, H., Weddige, A., Hagspiel, S., Kirschner, J., Brehm, M., Blank, C., Schubert, J., Schimmel, M., Pacheè, S., Mohrbach, M., Karenfort, M., Kamp, G., Lücke, T., Neumann, H., Lutz, S., Gierse, A., Sievers, S., Schiffmann, H., de Soye, I., Trollmann, R., Candova, A., Rosner, M., Neu, A., Romer, G., Seidel, U., John, R., Hofmann, C., Schulz, Kinder, S., Bertolatus, A., Scheidtmann, K., Lasogga, R., Leiz, S., Alber, M., Kranz, J., Bajer-Kornek, B., Seidl, R., Novak, A., Storm van's Gravesande, K., Calabrese, P., Blaschek, A., Rostásy, K., Huppke, P., Rothe, L., Mall, V., Kessler, J., and Kalbe, E.

Published
2019
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10. Psychometric properties of the KoCoN-V

Author

Schmidt, P., primary, Zernikow, B., additional, Hartenstein-Pinter, A., additional, Wager, J., additional, Bertolini, A., additional, Blankenburg, M., additional, Classen, G., additional, von der Hagen, M., additional, Hamelmann, E., additional, Raffler, S., additional, Schallner, J., additional, Schimmel, M., additional, Springer, S., additional, Wendel, E., additional, and Rostasy, K., additional

Published
2023
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11. Acute Unilateral Mydriasis in a Previously Healthy 10-Year-Old Girl: Differential Diagnoses.

Author

Wiethoff-Ubrig, L. and Rostasy, K.

Subjects
*MYDRIASIS, *DIFFERENTIAL diagnosis, *VISUAL evoked potentials, *PUPILLARY reflex, *ANGLE-closure glaucoma, *PUPIL diseases, *GIRLS
Abstract

This article, published in the journal Neuropediatrics, discusses a case of acute unilateral mydriasis in a previously healthy 10-year-old girl. Anisocoria, or unequal pupil size, can be a sign of a serious condition and requires further investigation. The differential diagnosis for this condition includes intracranial aneurysm, tumor, trauma, or acute glaucoma. In this case, the girl had a sudden onset of a dilated right pupil, blurred vision, and conjunctival irritation. However, further investigations such as a cranial MRI, EEG, and visual evoked potentials were unremarkable, and the mydriasis resolved without treatment. The authors diagnosed the condition as a benign unilateral mydriasis after ruling out other underlying pathologies. [Extracted from the article]

Published
2023
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12. Influence of Fingolimod Treatment on Disease Outcome and MRI Brain Volumes in Children with CLN 3.

Author

Goj, G., Marsch, B., Bertolini, A., Bartels, F., van Elten, A., Panzer, A., Otto, M., and Rostasy, K.

Subjects
THERAPEUTICS, PEDIATRIC therapy, FINGOLIMOD, MAGNETIC resonance imaging, NEURODEGENERATION
Abstract

This article, published in the journal Neuropediatrics, explores the effects of fingolimod treatment on the disease progression in children with CLN3, a neurodegenerative disorder. The study included ten children who were treated with fingolimod for at least one year. The treatment was well tolerated and did not result in any significant side effects. The results suggest that fingolimod may partially alleviate the disease progression in CLN3 patients by influencing secondary immunological reactions. [Extracted from the article]

Published
2023
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13. Treatment Response in Children with Relapsing MOGAD.

Author

Wendel, E.-M., Bertolini, A., Blaschek, A., Brilot, F., Chen, J. J., Dale, R., Deiva, K., Foiadelli, T., Giorgi, L., Huda, S., Karenfort, M., Mariotto, S., Ramanathan, S., Schimmel, M., Shah, V., Thiels, C., Schanda, K., Reindl, M., and Rostasy, K.

Subjects
PEDIATRIC therapy, INTRAVENOUS immunoglobulins, TREATMENT effectiveness, DISEASE progression, DISEASE relapse
Abstract

This article, published in the journal Neuropediatrics, discusses the treatment response in children with relapsing MOG-associated disease (MOGAD). The study evaluated the use of intravenous immunoglobulins (IVIG) compared to other therapies in children with relapsing disease course. The results showed that the annual relapse rate (ARR) was lower in all treatment groups compared to no treatment, with the lowest ARR observed in patients treated with IVIG alone. The study suggests that IVIG may have a favorable treatment effect in relapsing MOGAD, but further research is needed to determine the optimal treatment. [Extracted from the article]

Published
2023
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14. Outcome and Brain Volume Changes over Time in Children with Autoimmune Encephalitis and MOG Antibodies.

Author

Bertolini, A., Bartels, F., Wegener-Panzer, A., Cleaveland, R., Ullmann, F., Olive, G., Armangue, T., Häusler, M., Wendel, E. M., Knierim, E., Reiter-Fink, E., Breu, M., Marina, A. Della, Baumann, B. Tro, Reindl, M., Finke, C., and Rostasy, K.

Subjects
ENCEPHALITIS, IMMUNOGLOBULINS, GRAY matter (Nerve tissue), EPILEPSY, VOLUME (Cubic content), BRAIN diseases
Abstract

This article, published in the journal Neuropediatrics, examines the outcome and brain volume changes over time in children with MOG-encephalitis (MOG-E), a rare clinical phenotype of MOGAD. The study included 21 children with MOG-E, who presented with symptoms such as encephalopathy, headache, focal neurological signs, seizures, or CSF pleocytosis. The results showed that the majority of children had a good clinical outcome, with resolution of MRI changes and decreasing MOG antibodies over time. However, brain volumetry measurements indicated a decrease in whole brain volume, particularly in gray matter, after onset. [Extracted from the article]

Published
2023
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15. MRI Imaging in 10 Children with Enterovirus-Associated Acute Flaccid Myelitis.

Author

Goj, G., Helfferich, J., Naggar, I. El, Noßwitz, U., Bültmann, E., Deiva, K., Chung, J., Biebl, A., Steigleder, L., Cleaveland, R., Panzer, A., and Rostasy, K.

Subjects
MAGNETIC resonance imaging, MYELITIS, ENTEROVIRUS diseases, SPINAL cord, GRAY matter (Nerve tissue)
Abstract

This article, published in the journal Neuropediatrics, discusses the use of MRI imaging in 10 children with enterovirus-associated acute flaccid myelitis (AFM). AFM is characterized by limb weakness, decreased muscle tone, and cranial nerve involvement, and is predominantly caused by enterovirus infections. The MRI findings in these patients showed longitudinal spinal cord lesions mainly affecting the gray matter, as well as lesions in the brainstem and cerebellum. Supratentorial involvement was uncommon. The study confirms previous findings about the MRI imaging findings in enterovirus-associated AFM. [Extracted from the article]

Published
2023
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16. Frequency of Autoantibodies against the Gray and White Matter in Children with Suspected Encephalitis in the MERIN Study.

Author

Fellmeth, R. H., Kousoulos, L., Korenke, G.-C., Christen, H.-J., Leypoldt, D., Wandinger, K.-P., Dargvainiene, J., Monazahian, M., and Rostasy, K.

Subjects
GRAY matter (Nerve tissue), WHITE matter (Nerve tissue), AUTOANTIBODIES, ENCEPHALITIS, MEDICAL research personnel
Abstract

This article, published in the journal Neuropediatrics, examines the frequency of antibody-mediated autoimmune encephalitis (AE) in children with suspected encephalitis. The researchers reviewed medical records of 1,341 children treated in Hannover and Oldenburg between 2011 and 2020. They found that antibody-mediated AE was not frequent in children, but suggested that further testing for serum MOG antibodies should be included in diagnostic criteria. The study highlights the need for continued research to identify other potential antibodies involved in AE in children. [Extracted from the article]

Published
2023
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17. Clinical and Imaging Features of Children with Autoimmune Encephalitis and GFAP Antibodies.

Author

Sommer, S., Panzer, A., Bertolini, A., Jain, V., Derichs, U., Geis, T., Neu, A., Löhr-Nilles, C., Aeschimann-Huhn, R., Flotats-Bastardas, M., Deiva, K., Waltz, S., Böckenholt, K., Armangué, T., Olive, G., Sudheeran, K., and Rostasy, K.

Subjects
GLIAL fibrillary acidic protein, DIAGNOSTIC imaging, ENCEPHALITIS, SEIZURES (Medicine), TRANSVERSE myelitis, EPILEPSY
Abstract

This article, published in the journal Neuropediatrics, discusses the clinical and imaging features of children with autoimmune encephalitis (AE) and glial fibrillary acidic protein (GFAP) antibodies. The study included 16 children who met the diagnostic criteria for possible AE and tested positive for GFAP antibodies in their serum and/or cerebrospinal fluid. The children presented with symptoms such as encephalopathy, headache, focal seizures, and ataxia. MRI imaging revealed abnormalities in 13 out of 16 children, including freckling lesions in the pons and nucleus caudate, signal abnormalities around the aqueduct, and myelin indicative of transverse myelitis. The study recommends including GFAP antibody testing in the work-up of children with suspected AE, particularly in cases involving brainstem involvement. [Extracted from the article]

Published
2023
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18. A20 (TNFAIP3) Distinguishes Relapse from Remission in Pediatric Patients with Monophasic MOGAD: Preliminary Results.

Author

Lechner, C., Saxena, S., Lokhande, H., Breu, M., Eisenkölbl, A., Karenfort, M., Klein, A., Leiz, S., Preisel, M., Rooney, T., Rosso, M., Schimmel, M., Wendel, E. M., Reindl, M., Baumann, M., Rostasy, K., and Chitnis, T.

Subjects
CHILD patients, MYELIN oligodendrocyte glycoprotein, DEMYELINATION, DISEASE remission
Abstract

This article, published in the journal Neuropediatrics, discusses the use of A20 (TNFAIP3) as a potential biomarker to distinguish relapse from remission in pediatric patients with monophasic MOGAD (MOG-IgG-associated disorders). MOGAD is a type of acquired demyelinating syndrome associated with antibodies against myelin oligodendrocyte glycoprotein. The study found that A20 levels were significantly lower during clinical events compared to remission in monophasic MOGAD patients. However, there was no significant difference in A20 levels between clinical events and remission in multiphasic MOGAD patients. The authors suggest that further research is needed to investigate the diagnostic, prognostic, and therapeutic implications of A20 in pediatric MOGAD patients. [Extracted from the article]

Published
2023
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20. Corrigendum to “Autoantibody status, neuroradiological and clinical findings in children with acute cerebellitis” [Eur. J. Paediatr. Neurol. 47 (2023) 118–130]

Author

Quack, L., Glatter, S., Wegener-Panzer, A., Cleaveland, R., Bertolini, A., Endmayr, V., Seidl, R., Breu, M., Wendel, E., Schimmel, M., Baumann, M., Rauchenzauner, M., Pritsch, M., Boy, N., Muralter, T., Kluger, G., Makoswski, C., Kraus, V., Leiz, S., Loehr-Nilles, C., Kreth, J.H., Braig, S., Schilling, S., Kern, J., Blank, C., Baumann, B. Tro, Vieth, S., Wallot, M., Reindl, M., Ringl, H., Wandinger, K.P., Leypoldt, F., Höftberger, R., and Rostàsy, K.

Published
2024
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21. Mitochondrial diseases mimicking autoimmune diseases of the CNS and good response to steroids initially

Author

Marina, A. Della, Bertolini, A., Wegener-Panzer, A., Flotats-Bastardas, M., Reinhardt, T., Naggar, I. El, Distelmaier, F., Blaschek, A., Schara-Schmidt, U., Brunet, T., Wagner, M., Smirnov, D., Prokisch, H., Wortmann, S.B., Rostasy, K., Marina, A. Della, Bertolini, A., Wegener-Panzer, A., Flotats-Bastardas, M., Reinhardt, T., Naggar, I. El, Distelmaier, F., Blaschek, A., Schara-Schmidt, U., Brunet, T., Wagner, M., Smirnov, D., Prokisch, H., Wortmann, S.B., and Rostasy, K.

Abstract

Item does not contain fulltext, INTRODUCTION: Neuroimmunological diseases such as autoimmune encephalitis (AE) or acquired demyelinating syndromes (ADS), can present with neurological symptoms and imaging features that are indistinguishable from mitochondrial diseases (MD) in particular at initial presentation. METHODS: Retrospective analysis of the clinical, laboratory and neuroimaging features of five patients who presented with signs of a neuroimmunological disease but all had pathological pathogenic variants in genes related to mitochondrial energy metabolism. RESULTS: Four patients presented with an acute neurological episode reminiscent of a possible AE and one patient with a suspected ADS at initial presentation. MRI findings were compatible with neuroimmunological diseases in all patients. In two children cerebrospinal fluid (CSF) studies revealed a mildly elevated cell count, two had elevated CSF lactate, none had oligoclonal bands (OCBs). All patients improved rapidly with intravenous steroids or immunoglobulins. Four patients had one or more relapses. Three patients showed worsening of their neurological symptoms with subsequent episodes and one patient died. Relapses in conjunction with new and progressive neurological symptoms, led to additional work-up which finally resulted in different genetic diagnosis of MD in all patients (MT-TL1, MT-ND5, APOA1-BP, HPDL, POLG). DISCUSSION: We would like to draw attention to a subset of patients with MD initially presenting with signs and symptoms mimicking neuroimmunological. Absence of CSF pleocytosis, elevated CSF lactate and progressive, relapsing course should trigger further (genetic) investigations in search of a MD even in patients with good response initially to immunomodulating therapies.

Published
2022

22. MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations

Author

Himmelmann, Kate, Horber, Veronka, De La Cruz, Javier, Horridge, Karen, MejaskiBosnjak, Vlatka, Hollody, Katalin, KrägelohMann, Ingeborg, Cans, C, Bakel, Van, Arnaud, C, Delobel, M, Chalmers, J, McManus, V, Lyons, A, Parkes, J, Dolk, H, Pahlman, M, Dowding, V, Colver, A, Pennington, L, Kurinczuk, J, Surman, G, Platt, MJ, Udall, P, Rackauskaite, G, Torrioli, MG, Marcelli, M, Andersen, G, Julsen Hollung, S, Bottos, M, Gaffney, G, Gaffney, G, Pallas, C, JekovecVrhovšek, M, Virella, D, Andrada, M, Greitane, A, Sigurdardottir, S, Einarsson, I, Honold, M, and Rostasy, K

Published
2017
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26. Late Sequelae after Neuroblastoma-Associated Paraneoplastic Anti-Hu Syndrome in a 4-Year-Old Boy

Author

Rostasy K, Till A, Wandinger K, Winkler B, Ketzer J, Wunsch L, Langer T, Hero B, Tafazzoli K, Callsen F, Spiegler J, and Lauten M

Subjects
Pathology, medicine.medical_specialty, business.industry, Neuroblastoma, General Earth and Planetary Sciences, Medicine, Anti hu antibody, business, medicine.disease, General Environmental Science
Abstract

Anti-Hu syndrome is a rare autoantibody associated paraneoplastic disease of the central and peripheral nervous system resulting in a variety of neurological symptoms. In pediatric patients it is described in the context of (ganglio) neuroblastoma associated Opsoclonus-Myoclonus Syndrome (OMS) and other paraneoplastic syndromes. The timely diagnosis of paraneoplastic autoimmunity in childhood is hampered by its rarity as well as by the diversity of clinical symptoms that may occur. We report a 4-year-old boy with gastrointestinal disorder and neurological symptoms due to neuroblastomaassociated anti-Hu syndrome. The patient stabilized under a multimodal oncologic, immunosuppressive and antiepileptic treatment regimen. Treatment of neuroblastoma was individually modified and especially the specific anti- GD2 post-consolidation therapy was substituted by oral cyclophosphamide maintenance therapy in order not to aggravate autoimmune encephalitis. At the age of 8 years, the boy has been in ongoing complete oncologic remission for two years after end of relapse treatment. However, he suffers from neurologic symptoms like focal epilepsy and late sequelae of the oncologic disease. This case shows that treatment of paraneoplastic anti-Hu syndrome is challenging, encephalitis may persist long after oncologic remission and may lead to developmental delay and a variety of physical sequelae.

Published
2021

27. P–647 How do migraine attacks change during puberty?

Author

Boettcher, B, primary, Kyprianou, A, additional, Wildt, L, additional, Lechner, C, additional, Kößler, M, additional, Neururer, S, additional, Bettina, T, additional, Matthias, B, additional, Rostasy, K, additional, and Rauchenzauner, M, additional

Published
2021
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28. Altered EEG markers of synaptic plasticity in a human model of NMDA receptor deficiency: Anti-NMDA receptor encephalitis: Altered sleep EEG in anti-NMDAR encephalitis

Author

Gefferie, S. R., Maric, A., Critelli, H., Gueden, S., Kurlemann, G., Kurth, S., Nosadini, M., Plecko, B., Ringli, M., Rostasy, K., Sartori, S., Schmitt, B., Suppiej, A., Van Bogaert, P., Wehrle, F. M., Huber, R., and Bolsterli, B. K.

Subjects
Anti-N-Methyl-D-Aspartate Receptor Encephalitis, Male, Neuronal Plasticity, Slow waves, Adolescent, Socio-culturale, Electroencephalography, NMDA receptor, Brain Waves, Receptors, N-Methyl-D-Aspartate, Synaptic plasticity, Young Adult, Child, Preschool, Receptors, Encephalitis, Humans, Female, Sleep Stages, Sleep homeostasis, Child, Preschool, Retrospective Studies, N-Methyl-D-Aspartate
Published
2021

31. E.U. paediatric MOG consortium consensus: Part 5 – Treatment of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders

Author

Bruijstens, A.L., Wendel, E.M., Lechner, C., Bartels, F. (Frits), Finke, C., Breu, M., Flet-Berliac, L., de Chalus, A., Adamsbaum, C., Capobianco, M., Laetitia, G., Hacohen, Y., Hemingway, C., Wassmer, E. (Evangeline), Lim, M, Baumann, M. (Marc), Wickström, R., Armangue, T, Rostasy, K. (Kevin), Deiva, K., Neuteboom, R.F. (Rinze), Bruijstens, A.L., Wendel, E.M., Lechner, C., Bartels, F. (Frits), Finke, C., Breu, M., Flet-Berliac, L., de Chalus, A., Adamsbaum, C., Capobianco, M., Laetitia, G., Hacohen, Y., Hemingway, C., Wassmer, E. (Evangeline), Lim, M, Baumann, M. (Marc), Wickström, R., Armangue, T, Rostasy, K. (Kevin), Deiva, K., and Neuteboom, R.F. (Rinze)

Abstract

In recent years, the understanding about the different clinical phenotypes, diagnostic and prognostic factors of myelin oligodendrocyte glycoprotein-antibody-associated disorders (MOGAD) has significantly increased. However, there is still lack of evidence-based treatment protocols for acute attacks and children with a relapsing course of the disease. Currently used acute and maintenance treatment regimens are derived from other demyelinating central nervous system diseases and are mostly centrespecific. Therefore, this part of the Paediatric European Collaborative Consensus attempts to provide recommendations for acute and maintenance therapy based on clinical experience and evidence available from mainly retrospective studies. In the acute attack, intravenous methyl

Published
2020
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32. Treatment and outcome of aquaporin-4 antibody-positive NMOSD: A multinational pediatric study

Author

Paolilo, R.B., Hacohen, Y., Yazbeck, E., Armangue, T, Bruijstens, A., Lechner, C., Apostolos-Pereira, S.L., Martynenko, Y., Breu, M., Rimkus, C.D., Wassmer, E. (Evangeline), Baumann, M. (Marc), Papetti, L., Capobianco, M., Kornek, B. (Barbara), Rostasy, K. (Kevin), da Paz, J.A., Ciccarelli, O., Lim, M, Saiz, A. (Albert Abe), Neuteboom, R.F. (Rinze), Marignier, R. (Romain), Hemingway, C., Sato, D.K., Deiva, K., Paolilo, R.B., Hacohen, Y., Yazbeck, E., Armangue, T, Bruijstens, A., Lechner, C., Apostolos-Pereira, S.L., Martynenko, Y., Breu, M., Rimkus, C.D., Wassmer, E. (Evangeline), Baumann, M. (Marc), Papetti, L., Capobianco, M., Kornek, B. (Barbara), Rostasy, K. (Kevin), da Paz, J.A., Ciccarelli, O., Lim, M, Saiz, A. (Albert Abe), Neuteboom, R.F. (Rinze), Marignier, R. (Romain), Hemingway, C., Sato, D.K., and Deiva, K.

Abstract

Objective To describe the clinical phenotypes, treatment response, and outcome of children with antibodies against aquaporin-4 (AQP4-Ab) neuromyelitis optica spectrum disorder (NMOSD). Methods Retrospective, multicenter, and multinational study of patients with AQP4-Ab NMOSD aged <18 years at disease onset from a center in Brazil and 13 European centers. Data on demographics, clinical findings, and laboratory results were analyzed; calculation of annualized relapse rates (ARRs) pre- and on-treatment with disease-modifying therapies (DMTs) and of ORs for predictors of poor outcome was performed. Results A total of 67 children were identified. At last follow-up (median 4 years, interquartile range 2–10 years), 37/67(57.8%) were found to have permanent disability. A more severe disease course was seen in the non-White ethnicity with both a shorter time to first relapse (p = 0.049) and a worse Expanded Disability Status Scale score at last follow-up (p = 0.008). The median ARR on treatment was 0.18 on azathioprine (n = 39, range 0–4), 0 on mycophenolate mofetil (n = 18, range 0–3), and 0 on rituximab (n = 29, range 0–2). No patient treated with rituximab as first-line therapy relapsed. Optic neuritis at onset was associated with a poor visual outcome below 20/200 (OR 8.669, 95% CI 1.764–42.616, p = 0.008), and a younger age at onset was associated with cognitive impairment (OR 0.786, 95% CI 0.644–0.959, p = 0.018). Conclusions AQP4-Ab NMOSD in children is an aggressive disease with permanent disabilities observed in over half the cohort. All DMTs were associated with a reduction of ARR. First-line rituximab prevented further clinical relapses. International consensus on treatment protocols for children is required to reduce heterogeneity of treatment regimens used worldwide. Classification of evidence This study provides Class IV evidence that for children with AQP4-Ab NMOSD, all DMTs, particularly first-line rituximab, reduced the ARR and prevented further clinical rel

Published
2020
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33. Treatment and outcome of aquaporin-4 antibody-positive NMOSD: A multinational pediatric study

Author

Paolilo, RB, Hacohen, Y, Yazbeck, E, Armangue, T, Bruijstens, A, Lechner, C, Apostolos-Pereira, SL, Martynenko, Y, Breu, M, Rimkus, CD, Wassmer, E, Baumann, M, Papetti, L, Capobianco, M, Kornek, B, Rostasy, K, da Paz, JA, Ciccarelli, O, Lim, M, Saiz, A, Neuteboom, R, Marignier, R, Hemingway, C, Sato, DK, Deiva, K, Paolilo, RB, Hacohen, Y, Yazbeck, E, Armangue, T, Bruijstens, A, Lechner, C, Apostolos-Pereira, SL, Martynenko, Y, Breu, M, Rimkus, CD, Wassmer, E, Baumann, M, Papetti, L, Capobianco, M, Kornek, B, Rostasy, K, da Paz, JA, Ciccarelli, O, Lim, M, Saiz, A, Neuteboom, R, Marignier, R, Hemingway, C, Sato, DK, and Deiva, K

Published
2020

34. E.U. paediatric MOG consortium consensus: Part 5 – Treatment of paediatric myelin oligodendrocyte glycoprotein antibody-associated disorders

Author

Bruijstens, Arlette, Wendel, EM, Lechner, C, Bartels, F, Finke, C, Breu, M, Flet-Berliac, L, de Chalus, A, Adamsbaum, C, Capobianco, M, Laetitia, G, Hacohen, Y, Hemingway, C, Wassmer, E, Lim, M, Baumann, M, Wickström, R, Armangue, T, Rostasy, K, Deiva, K, Neuteboom, Rinze, Bruijstens, Arlette, Wendel, EM, Lechner, C, Bartels, F, Finke, C, Breu, M, Flet-Berliac, L, de Chalus, A, Adamsbaum, C, Capobianco, M, Laetitia, G, Hacohen, Y, Hemingway, C, Wassmer, E, Lim, M, Baumann, M, Wickström, R, Armangue, T, Rostasy, K, Deiva, K, and Neuteboom, Rinze

Published
2020

36. HIV leucoencephalopathy and TNF[alpha] expression in neurones

Author

Rostasy, K., Monti, L., Lipton, S.A., Hedreen, J.C., Gonzalez, R.G., and Navia, B.A.

Subjects
Tumor necrosis factor -- Complications and side effects, Neurons -- Genetic aspects, Leukoencephalopathy -- Development and progression, Leukoencephalopathy -- Research, Leukoencephalopathy -- Causes of, HIV (Viruses) -- Complications and side effects, HIV (Viruses) -- Diseases, Health, Psychology and mental health
Published
2005

43. The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)

Author

Baldassari, S., Picard, F., Verbeek, N.E., Kempen, M. van, Brilstra, E.H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., Saint Martin, A. de, Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmuller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E.H., Jansen, F.E., Braun, K., Jong, D. de, Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M.L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A.S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D.R., Lindstrom, K., Striano, P., Lomax, L.B., Kiss, C., Bartolomei, F., Lepine, A.F., Schoonjans, A.S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., Bellescize, J. de, Catenoix, H., Dorn, T., Zenker, M., Muller-Schluter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C.J., Weckhuysen, S., Poduri, A., Lemke, J.R., Moller, R.S., and Baulac, S.

Published
2019

44. An international multicentre validation experiment for MOG antibodies

Author

Reindl, M, Schanda, K, Woodhall, M, Tea, F, Ramanathan, S, Teegen, B, Sagen, J, Fryer, J, Mills, J, Mindorf, S, Ritter, N, Krummrei, U, Stoecker, W, Eggert, J, Rostasy, K, Berger, T, Irani, S, Dale, R, Probst, C, Brilot, F, Probst, M, Pittock, S, and Waters, P

Published
2019

45. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study

Author

Jansen, A.C. Belousova, E. Benedik, M.P. Carter, T. Cottin, V. Curatolo, P. D'Amato, L. D'Augères, G.B. De Vries, P.J. Ferreira, J.C. Feucht, M. Fladrowski, C. Hertzberg, C. Jozwiak, S. Lawson, J.A. MacAya, A. Marques, R. Nabbout, R. O'Callaghan, F. Qin, J. Sander, V. Sauter, M. Shah, S. Takahashi, Y. Touraine, R. Youroukos, S. Zonnenberg, B. Kingswood, J.C. Fladrowsk, C. Shinohara, N. Horie, S. Kubota, M. Tohyama, J. Imai, K. Kaneda, M. Kaneko, H. Uchida, Y. Kirino, T. Endo, S. Inoue, Y. Uruno, K. Serdaroglu, A. Yapici, Z. Anlar, B. Altunbasak, S. Lvova, O. Belyaev, O.V. Agranovich, O. Levitina, E.V. Maksimova, Y.V. Karas, A. Jiang, Y. Zou, L. Xu, K. Zhang, Y. Luan, G. Zhang, Y. Wang, Y. Jin, M. Ye, D. Liao, W. Zhou, L. Liu, J. Liao, J. Yan, B. Deng, Y. Jiang, L. Liu, Z. Huang, S. Li, H. Kim, K. Chen, P.-L. Lee, H.-F. Tsai, J.-D. Chi, C.-S. Huang, C.-C. Riney, K. Yates, D. Kwan, P. Likasitwattanakul, S. Nabangchang, C. Krisnachai Chomtho, L.T. Katanyuwong, K. Sriudomkajorn, S. Wilmshurst, J. Segel, R. Gilboa, T. Tzadok, M. Fattal-Valevski, A. Papathanasopoulos, P. Papavasiliou, A.S. Giannakodimos, S. Gatzonis, S. Pavlou, E. Tzoufi, M. Vergeer, A.M.H. Dhooghe, M. Verhelst, H. Roelens, F. Nassogne, M.C. Defresne, P. De Waele, L. Leroy, P. Demonceau, N. Legros, B. Van Bogaert, P. Ceulemans, B. Dom, L. Castelnau, P. De Saint Martin, A. Riquet, A. Milh, M. Cances, C. Pedespan, J.-M. Ville, D. Roubertie, A. Auvin, S. Berquin, P. Richelme, C. Allaire, C. Gueden, S. The Tich, S.N. Godet, B. Ruiz Falco Rojas, M.L. Planas, J.C. Bermejo, A.M. Dura, P.S. Aparicio, S.R. Martinez Gonzalez, M.J. Pison, J.L. Blanco Barca, M.O. Laso, E.L. Luengo, O.A. Aguirre Rodriguez, F.J. Dieguez, I.M. Salas, A.C. Carrera, I.M. Salcedo, E.M. Yoldi Petri, M.E. Candela, R.C. Da Conceicao Carrilho, I. Vieira, J.P. Da Silva Oliveira Monteiro, J.P. Santos De Oliveira Ferreira Leao, M.J. Marceano Ribeiro Luis, C.S. Mendonca, C.P. Endziniene, M. Strautmanis, J. Talvik, I. Canevini, M.P. Gambardella, A. Pruna, D. Buono, S. Fontana, E. Dalla Bernardina, B. Burloiu, C. Bacos Cosma, I.S. Vintan, M.A. Popescu, L. Zitterbart, K. Payerova, J. Bratsky, L. Zilinska, Z. Gruber-Sedlmayr, U. Baumann, M. Haberlandt, E. Rostasy, K. Pataraia, E. Elmslie, F. Johnston, C.A. Crawford, P. Uldall, P. Dahlin, M. Uvebrant, P. Rask, O. Bjoernvold, M. Brodtkorb, E. Sloerdahl, A. Solhoff, R. Gilje Jaatun, M.S. Mandera, M. Radzikowska, E.J. Wysocki, M. Fischereder, M. Kurlemann, G. Wilken, B. Wiemer-Kruel, A. Budde, K. Marquard, K. Knuf, M. Hahn, A. Hartmann, H. Merkenschlager, A. Trollmann, R. on behalf of TOSCA Consortium TOSCA Investigators

Abstract

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. © 2019 Jansen, Belousova, Benedik, Carter, Cottin, Curatolo, D'Amato, Beaure d'Augères, de Vries, Ferreira, Feucht, Fladrowski, Hertzberg, Jozwiak, Lawson, Macaya, Marques, Nabbout, O'Callaghan, Qin, Sander, Sauter, Shah, Takahashi, Touraine, Youroukos, Zonnenberg and Kingswood.

Published
2019

46. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

Author

Nabbout, R, Belousova, E, Benedik, Mp, Carter, T, Cottin, V, Curatolo, P, Dahlin, M, Damato, L, D'Augeres, Gb, de Vries, Pj, Ferreira, Jc, Feucht, M, Fladrowski, C, Hertzberg, C, Jozwiak, S, Lawson, Ja, Macaya, A, Marques, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, Touraine, R, Youroukos, S, Zonnenberg, B, Jansen, A, Kingswood, Jc, Shinohara, N, Horie, S, Kubota, M, Tohyama, J, Imai, K, Kaneda, M, Kaneko, H, Uchida, Y, Endo, S, Inoue, Y, Uruno, K, Serdaroglu, A, Yapici, Z, Anlar, B, Altunbasak, S, Lvova, O, Valeryevich Belyaev, O, Agranovich, O, Vladislavovna Levitina, E, Vladimirovna Maksimova, Y, Karas, A, Jiang, Y, Zou, L, Xu, K, Zhang, Y, Luan, G, Wang, Y, Jin, M, Ye, D, Liao, W, Zhou, L, Liu, J, Liao, J, Yan, B, Deng, Y, Jiang, L, Liu, Z, Huang, S, Li, H, Kim, K, Chen, P, Lee, H, Tsai, J, Chi, C, Huang, C, Riney, K, Yates, D, Kwan, P, Likasitwattanakul, S, Nabangchang, C, Thampratankul Krisnachai Chomtho, L, Katanyuwong, K, Sriudomkajorn, S, Wilmshurst, J, Segel, R, Gilboa, T, Tzadok, M, Fattal-Valevski, A, Papathanasopoulos, P, Syrigou Papavasiliou, A, Giannakodimos, S, Gatzonis, S, Pavlou, E, Tzoufi, M, Dhooghe, M, Verhelst, H, Roelens, F, Cecile Nassogne, M, Defresne, P, De Waele, L, Leroy, P, Demonceau, N, Van Bogaert, P, Ceulemans, B, Dom, L, Castelnau, P, De Saint Martin, A, Riquet, A, Milh, M, Cances, C, Pedespan, J, Ville, D, Roubertie, A, Auvin, S, Berquin, P, Richelme, C, Allaire, C, Gueden, S, Nguyen The Tich, S, Godet, B, Rojas, Mlrf, Planas, Jc, Bermejo, Am, Dura, Ps, Aparicio, Sr, Gonzalez, Mjm, Pison, Jl, Blanco Barca, Mo, Laso, El, Luengo, Oa, Rodriguez, Fja, Dieguez, Im, Salas, Ac, Carrera, Im, Salcedo, Em, Petri, Mey, Candela, Rc, Carrilho, Idc, Vieira, Jp, Monteiro, Jpdso, Leao, Mjsdof, Luis, Csmr, Pires Mendonca, C, Endziniene, M, Strautmanis, J, Talvik, I, Canevini, Mp, Gambardella, A, Pruna, D, Buono, S, Fontana, E, Bernardina, Bd, Burloiu, C, Cosma, Isb, Vintan, Ma, Popescu, L, Zitterbart, K, Payerova, J, Bratsky, L, Zilinska, Z, Gruber-Sedlmayr, U, Haberlandt, E, Rostasy, K, Pataraia, E, Elmslie, F, Ann Johnston, C, Crawford, P, Uldall, P, Uvebrant, P, Rask, O, Bjoernvold, M, Sloerdahl, A, Solhoff, R, Jaatun, Msg, Mandera, M, Radzikowska, Ej, Wysocki, M, Fischereder, M, Kurlemann, G, Wilken, B, Wiemer-Kruel, A, Budde, K, Marquard, K, Knuf, M, Hahn, A, Hartmann, H, Merkenschlager, A, and Trollmann, R

Subjects
0301 basic medicine, medicine.medical_specialty, Pediatrics, Neurology, Disease, tuberous sclerosis complex, 030105 genetics & heredity, registry, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Intellectual disability, medicine, Seizure control, TOSCA, business.industry, epilepsy, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, 3. Good health, medicine.anatomical_structure, Cohort, Full‐length Original Research, Neurology (clinical), TSC1, business, 030217 neurology & neurosurgery
Abstract

Summary Objective To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC). Methods Retrospective and prospective patients’ data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice. Results Epilepsy was reported in 83.6% of patients (1852/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4 year (median

Published
2019

49. Clinical trials of disease-modifying agents in pediatric MS Opportunities, challenges, and recommendations from the IPMSSG

Author

Waubant, E. (Emmanuelle), Banwell, B. (Brenda), Wassmer, E. (Evangeline), Sormani, M.P., Amato, M.P. (Maria), Hintzen, R.Q. (Rogier), Krupp, L., Rostasy, K. (Kevin), Tenembaum, S. (Silvia), Chitnis, T. (Tanuja), Waubant, E. (Emmanuelle), Banwell, B. (Brenda), Wassmer, E. (Evangeline), Sormani, M.P., Amato, M.P. (Maria), Hintzen, R.Q. (Rogier), Krupp, L., Rostasy, K. (Kevin), Tenembaum, S. (Silvia), and Chitnis, T. (Tanuja)

Abstract

Objective The impetus for this consensus discussion was to recommend clinical trial designs that can deliver high-quality data for effective therapies for pediatric patients, in a reasonable timeframe, with a key focus on short- and long-term safety. Methods The International Pediatric Multiple Sclerosis Study Group convened a meeting of experts to review the advances in the understanding of pediatric-onset multiple sclerosis (MS) and the advent of clinical trials for this population. Results In the last few years, convincing evidence has emerged that the biological processes involved in MS are largely shared across the age span. As such, treatments proven efficacious for the care of adults with MS have a biological rationale for use in pediatric MS given the relapsing-remitting course at onset and high relapse frequency. There are also ethical considerations on conducting clinical trials in this age group including the use of placebo

Published
2019
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50. The Multiple Sclerosis Inventory of Cognition for Adolescents (MUSICADO): A brief screening instrument to assess cognitive dysfunction, fatigue and loss of health-related quality of life in pediatric-onset multiple sclerosis

Author

Gravesande, K. Storm Van's, Calabrese, P., Blaschek, A., Rostasy, K., Huppke, P., Rothe, L., Mall, V, Kessler, J., Kalbe, E., Kraus, V, Dornfeld, E., Elpers, C., Lohmann, H., Weddige, A., Hagspiel, S., Kirschner, J., Brehm, M., Blank, C., Schubert, J., Schimmel, M., Pachee, S., Mohrbach, M., Karenfort, M., Kamp, G., Luecke, T., Neumann, H., Lutz, S., Gierse, A., Sievers, S., Schiffmann, H., de Soye, I, Trollmann, R., Candova, A., Rosner, M., Neu, A., Romer, G., Seidel, U., John, R., Hofmann, C., Kinder, S., Bertolatus, A., Scheidtmann, K., Lasogga, R., Leiz, S., Alber, M., Kranz, J., Bajer-Kornek, B., Seidl, R., Novak, A., Gravesande, K. Storm Van's, Calabrese, P., Blaschek, A., Rostasy, K., Huppke, P., Rothe, L., Mall, V, Kessler, J., Kalbe, E., Kraus, V, Dornfeld, E., Elpers, C., Lohmann, H., Weddige, A., Hagspiel, S., Kirschner, J., Brehm, M., Blank, C., Schubert, J., Schimmel, M., Pachee, S., Mohrbach, M., Karenfort, M., Kamp, G., Luecke, T., Neumann, H., Lutz, S., Gierse, A., Sievers, S., Schiffmann, H., de Soye, I, Trollmann, R., Candova, A., Rosner, M., Neu, A., Romer, G., Seidel, U., John, R., Hofmann, C., Kinder, S., Bertolatus, A., Scheidtmann, K., Lasogga, R., Leiz, S., Alber, M., Kranz, J., Bajer-Kornek, B., Seidl, R., and Novak, A.

Abstract

Objective: Screening for cognitive impairment (CI), fatigue and also Health-related quality of life (HRQoL) in patients with pediatric-onset multiple sclerosis (POMS) is of utmost importance in clinical practice. The aim of this study was to establish a new and validated pediatric screening tool MUSICADO that is easy to use and time economical. Methods: 106 patients with POMS aged 12-18 years and 210 healthy controls (HCs) stratified for age and education underwent neuropsychological testing including a screening test Multiple Sclerosis Inventory of Cognition for adults and 8 standardized cognitive tests and established scales to assess fatigue and HRQoL. Results: The phonemic verbal fluency task (RWT s-words), the Trail Making Test A (TMTA), and the Digit Span Forward discriminated significantly between patients and HCs (p = 0.000, respectively) and showed the highest proportion of test failure in patients 24.5%, 17.9%; 15.1%, respectively). Therefore, they were put together to form the cognitive part of the MUSICADO. After applying a scoring algorithm with balanced weighting of the subtests and age and education correction and a cut-off score for impairment, 35.8% of patients were categorized to be cognitively impaired (specificity: 88.6%). Fatigue was detected in 37.1% of the patients (specificity: 94.0%) and loss of HRQoL in 41.8% (specificity 95.7%) with the screening version, respectively. Conclusion: The MUSICADO is a newly designed brief and easy to use screening test to help to early identify CI, fatigue, and loss of HRQoL in patients with POMS as cut scores are provided for all three items. Further studies will have to show its usability in independent samples of patients with POMS. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Published
2019

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