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  1. AU="Kevin Rostásy"
  2. AU=van Helden Mary J.
  3. AU="Grzegorz Adamczyk"
  4. AU="Longo, M"
  5. AU="Debarnot, Cecilé"
  6. AU="Thomas, Sophie"
  7. AU=Steyer Terence E AU=Steyer Terence E
  8. AU="Retrouvey, Jean-Marc"
  9. AU="Crecchio, Carmine"
  10. AU=Moll Philip J. W.
  11. AU="Coombs, Catherine C"
  12. AU="Safaei, Naser"
  13. AU="Bachouche, Imene"
  14. AU="Roignant, Jean-Yves"
  15. AU="Thabet, Nagwa"
  16. AU="Asor, Eyal"
  17. AU="Rahaman, Md Hasibur"
  18. AU="Angela Di Capua"
  19. AU=De Vitis R
  20. AU="Young, Kaelin C"

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  1. Artikel: Neurological expression of genetic immunodeficiencies and of opportunistic infections.

    Marc, Tardieu / Kevin, Rostasy

    Handbook of clinical neurology

    2013  Band 112, Seite(n) 1219–1227

    Abstract: Immunodeficiencies may result from genetic defects or may be acquired after viral infection or therapeutic immunosuppression. In either case, neurological symptoms are frequent. Hemophagocytic lymphohistiocytosis (HLH), previously designated as ... ...

    Abstract Immunodeficiencies may result from genetic defects or may be acquired after viral infection or therapeutic immunosuppression. In either case, neurological symptoms are frequent. Hemophagocytic lymphohistiocytosis (HLH), previously designated as macrophage activation syndrome (MAS), results usually from genetic defects impairing the cytotoxicity of CD8 T lymphocytes and natural killer (NK) cells. Neurological symptoms may be the first and only manifestation of the disease. The neurological and neuroradiological aspects of MAS, if isolated, may closely resemble those of other central nervous system (CNS) diseases such as acute disseminated encephalomyelitis (ADEM) or encephalitis. An early treatment including allogeneic hematopoietic stem cell transplantation can prevent further brain lesions. The main infections of the CNS observed in conjunction with therapeutic immunosuppression are described. It is important to know which phase of immunosuppression the child is in at the time of suspected CNS infection and always to consider that a relapse of the primary tumor may mimic a CNS infection.
    Mesh-Begriff(e) Brain/pathology ; Child ; Humans ; Immunologic Deficiency Syndromes/diagnosis ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/pathology ; Lymphohistiocytosis, Hemophagocytic/diagnosis ; Lymphohistiocytosis, Hemophagocytic/genetics ; Lymphohistiocytosis, Hemophagocytic/pathology ; Opportunistic Infections/diagnosis ; Opportunistic Infections/genetics ; Opportunistic Infections/pathology
    Sprache Englisch
    Erscheinungsdatum 2013
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article ; Review
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-444-52910-7.00044-1
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Increased chitotriosidase 1 concentration following nusinersen treatment in spinal muscular atrophy

    Maren Freigang / Petra Steinacker / Claudia Diana Wurster / Olivia Schreiber-Katz / Alma Osmanovic / Susanne Petri / Jan Christoph Koch / Kevin Rostásy / Björn Falkenburger / Albert Christian Ludolph / Markus Otto / Andreas Hermann / René Günther

    Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-

    2021  Band 11

    Abstract: Abstract Background Studies regarding the impact of (neuro)inflammation and inflammatory response following repetitive, intrathecally administered antisense oligonucleotides (ASO) in 5q-associated spinal muscular atrophy (SMA) are sparse. Increased risk ... ...

    Abstract Abstract Background Studies regarding the impact of (neuro)inflammation and inflammatory response following repetitive, intrathecally administered antisense oligonucleotides (ASO) in 5q-associated spinal muscular atrophy (SMA) are sparse. Increased risk of hydrocephalus in untreated SMA patients and a marginal but significant increase of the serum/CSF albumin ratio (Qalb) with rare cases of communicating hydrocephalus during nusinersen treatment were reported, which confirms the unmet need of an inflammatory biomarker in SMA. The aim of this study was to investigate the (neuro)inflammatory marker chitotriosidase 1 (CHIT1) in SMA patients before and following the treatment with the ASO nusinersen. Methods In this prospective, multicenter observational study, we studied CSF CHIT1 concentrations in 58 adult and 21 pediatric patients with SMA type 1, 2 or 3 before treatment initiation in comparison to age- and sex-matched controls and investigated its dynamics during nusinersen treatment. Concurrently, motor performance and disease severity were assessed. Results CHIT1 concentrations were elevated in treatment-naïve SMA patients as compared to controls, but less pronounced than described for other neurodegenerative diseases such as amyotrophic lateral sclerosis. CHIT1 concentration did not correlate with disease severity and did not distinguish between clinical subtypes. CHIT1 concentration did show a significant increase during nusinersen treatment that was unrelated to the clinical response to nusinersen therapy. Conclusions CHIT1 elevation in treatment-naïve SMA patients indicates the involvement of (neuro)inflammation in SMA. The lacking correlation of CHIT1 concentration with disease severity argues against its use as a marker of disease progression. The observed CHIT1 increase during nusinersen treatment may indicate an immune response-like, off-target reaction. Since antisense oligonucleotides are an establishing approach in the treatment of neurodegenerative diseases, this observation needs to be further evaluated.
    Schlagwörter SMA ; Chitotriosidase 1 ; Biomarker ; Nusinersen ; ASO ; Medicine ; R
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2021-07-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: Methodological Challenges in Protein Microarray and Immunohistochemistry for the Discovery of Novel Autoantibodies in Paediatric Acute Disseminated Encephalomyelitis

    Patrick Peschl / Melanie Ramberger / Romana Höftberger / Karin Jöhrer / Matthias Baumann / Kevin Rostásy / Markus Reindl

    International Journal of Molecular Sciences, Vol 18, Iss 3, p

    2017  Band 679

    Abstract: Acute disseminated encephalomyelitis (ADEM) is a rare autoimmune-mediated demyelinating disease affecting mainly children and young adults. Differentiation to multiple sclerosis is not always possible, due to overlapping clinical symptoms and recurrent ... ...

    Abstract Acute disseminated encephalomyelitis (ADEM) is a rare autoimmune-mediated demyelinating disease affecting mainly children and young adults. Differentiation to multiple sclerosis is not always possible, due to overlapping clinical symptoms and recurrent and multiphasic forms. Until now, immunoglobulins reactive to myelin oligodendrocyte glycoprotein (MOG antibodies) have been found in a subset of patients with ADEM. However, there are still patients lacking autoantibodies, necessitating the identification of new autoantibodies as biomarkers in those patients. Therefore, we aimed to identify novel autoantibody targets in ADEM patients. Sixteen ADEM patients (11 seronegative, 5 seropositive for MOG antibodies) were analysed for potential new biomarkers, using a protein microarray and immunohistochemistry on rat brain tissue to identify antibodies against intracellular and surface neuronal and glial antigens. Nine candidate antigens were identified in the protein microarray analysis in at least two patients per group. Immunohistochemistry on rat brain tissue did not reveal new target antigens. Although no new autoantibody targets could be found here, future studies should aim to identify new biomarkers for therapeutic and prognostic purposes. The microarray analysis and immunohistochemistry methods used here have several limitations, which should be considered in future searches for biomarkers.
    Schlagwörter acute disseminated encephalomyelitis ; paediatric ; autoantibody ; autoantigen ; protein microarray ; immunohistochemistry ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2017-03-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Comparison of diagnostic accuracy of microscopy and flow cytometry in evaluating N-methyl-D-aspartate receptor antibodies in serum using a live cell-based assay.

    Melanie Ramberger / Patrick Peschl / Kathrin Schanda / Regina Irschick / Romana Höftberger / Florian Deisenhammer / Kevin Rostásy / Thomas Berger / Josep Dalmau / Markus Reindl

    PLoS ONE, Vol 10, Iss 3, p e

    2015  Band 0122037

    Abstract: N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune neurological disease, diagnosed by a specific autoantibody against NMDAR. Antibody testing using commercially available cell-based assays (CBA) or immunohistochemistry on rat brain ... ...

    Abstract N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune neurological disease, diagnosed by a specific autoantibody against NMDAR. Antibody testing using commercially available cell-based assays (CBA) or immunohistochemistry on rat brain tissue has proven high specificity and sensitivity. Here we compare an immunofluorescence live CBA to a flow cytometry (FACS) based assay to detect NMDAR antibodies by their binding to the surface of HEK293A cells functionally expressing NMDAR. Both assays were first established using a discovery group of 76 individuals and then validated in a group of 32 patients in a blinded manner. In the CBA, 23 of 23 patients with NMDAR encephalitis were positive for NMDAR antibodies and 0 of 85 controls (32 healthy controls and 53 patients with other neurological diseases), resulting in a sensitivity and specificity of 100% (95% confidence intervals (CI) 85.1-100.0 and 95.7-100.0, respectively). The FACS based assay detected NMDAR antibodies in 20 of 23 patients and in 0 of 85 controls. Therefore, with an equally high specificity (95% CI 95.7-100.0) the sensitivity of the FACS based assay was 87% (95% CI 66.4-97.2). Comparing antibody titers from CBA with delta median fluorescence intensities from FACS showed a high concordance (kappa = 0.943, p<0.0001) and correlation (r = 0.697, p<0.0001). In conclusion, evaluation of the FACS based assay revealed a lower sensitivity and high inter-assay variation, making the CBA a more reliable detection method.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 616 ; 610
    Sprache Englisch
    Erscheinungsdatum 2015-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: Infectious Mononucleosis Triggers Generation of IgG Auto-Antibodies against Native Myelin Oligodendrocyte Glycoprotein

    Kristina Kakalacheva / Stephan Regenass / Silke Wiesmayr / Tarik Azzi / Christoph Berger / Russell C. Dale / Fabienne Brilot / Christian Münz / Kevin Rostasy / David Nadal / Jan D. Lünemann

    Viruses, Vol 8, Iss 2, p

    2016  Band 51

    Abstract: A history of infectious mononucleosis (IM), symptomatic primary infection with the Epstein Barr virus, is associated with the development of autoimmune diseases and increases the risk to develop multiple sclerosis. Here, we hypothesized that immune ... ...

    Abstract A history of infectious mononucleosis (IM), symptomatic primary infection with the Epstein Barr virus, is associated with the development of autoimmune diseases and increases the risk to develop multiple sclerosis. Here, we hypothesized that immune activation during IM triggers autoreactive immune responses. Antibody responses towards cellular antigens using a HEp-2 based indirect immunofluorescence assay and native myelin oligodendrocyte glycoprotein (MOG) using a flow cytometry-based assay were determined in 35 patients with IM and in 23 control subjects. We detected frequent immunoglobulin M (IgM) reactivity to vimentin, a major constituent of the intermediate filament family of proteins, in IM patients (27/35; 77%) but rarely in control subjects (2/23; 9%). IgG autoantibodies binding to HEp-2 cells were absent in both groups. In contrast, IgG responses to native MOG, present in up to 40% of children with inflammatory demyelinating diseases of the central nervous system (CNS), were detectable in 7/35 (20%) patients with IM but not in control subjects. Normalization of anti-vimentin IgM levels to increased total IgM concentrations during IM resulted in loss of significant differences for anti-vimentin IgM titers. Anti-MOG specific IgG responses were still detectable in a subset of three out of 35 patients with IM (9%), even after normalization to increased total IgG levels. Vimentin-specific IgM and MOG-specific IgG responses decreased following clinical resolution of acute IM symptoms. We conclude from our data that MOG-specific memory B cells are activated in subset of patients with IM.
    Schlagwörter Epstein Barr virus ; infectious mononucleosis ; autoimmunity ; autoantibody ; multiple sclerosis ; Microbiology ; QR1-502 ; Science ; Q
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2016-02-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel ; Online: The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

    Jan Henje Döring / Afshin Saffari / Thomas Bast / Knut Brockmann / Laura Ehrhardt / Walid Fazeli / Wibke G. Janzarik / Gerhard Kluger / Hiltrud Muhle / Rikke S. Møller / Konrad Platzer / Joana Larupa Santos / Iben Bache / Astrid Bertsche / Michaela Bonfert / Ingo Borggräfe / Philip J. Broser / Alexandre N. Datta / Trine Bjørg Hammer /
    Hans Hartmann / Anette Hasse-Wittmer / Marco Henneke / Hermann Kühne / Johannes R. Lemke / Oliver Maier / Eva Matzker / Andreas Merkenschlager / Joachim Opp / Steffi Patzer / Kevin Rostasy / Birgit Stark / Adam Strzelczyk / Celina von Stülpnagel / Yvonne Weber / Markus Wolff / Birgit Zirn / Georg Friedrich Hoffmann / Stefan Kölker / Steffen Syrbe

    Biomedicines, Vol 8, Iss 456, p

    2020  Band 456

    Abstract: Pathogenic variants in PRRT2 , encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at ... ...

    Abstract Pathogenic variants in PRRT2 , encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic disorders. Based on a cohort of children with PRRT2-related infantile epilepsy, this study aimed at delineating the broad clinical spectrum of PRRT2-associated phenotypes in these children and their relatives. Only a few recent larger cohort studies are on record and findings from single reports were not confirmed so far. We collected detailed genetic and phenotypic data of 40 previously unreported patients from 36 families. All patients had benign infantile epilepsy and harbored pathogenic variants in PRRT2 (core cohort). Clinical data of 62 family members were included, comprising a cohort of 102 individuals (extended cohort) with PRRT2-associated neurological disease. Additional phenotypes in the cohort of patients with benign sporadic and familial infantile epilepsy consist of movement disorders with paroxysmal kinesigenic dyskinesia in six patients, infantile-onset movement disorders in 2 of 40 individuals, and episodic ataxia after mild head trauma in one girl with bi-allelic variants in PRRT2 . The same girl displayed a focal cortical dysplasia upon brain imaging. Familial hemiplegic migraine and migraine with aura were reported in nine families. A single individual developed epilepsy with continuous spikes and waves during sleep. In addition to known variants, we report the novel variant c.843G>T, p.(Trp281Cys) that co-segregated with benign infantile epilepsy and migraine in one family. Our study highlights the variability of clinical presentations of patients harboring pathogenic PRRT2 variants and expands the associated phenotypic spectrum.
    Schlagwörter PRRT2 ; BFIS ; PKD ; PKD/IC ; hemiplegic migraine ; familial infantile epilepsy ; Biology (General) ; QH301-705.5
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2020-10-01T00:00:00Z
    Verlag MDPI AG
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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