ArticleNeurology(R) neuroimmunology & neuroinflammation2024
Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.
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Article in Neurology(R) neuroimmunology & neuroinflammation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12citing papers in PubMed
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Who cites it
12 citing papers in PubMed.
- Chromatin regulator expression patterns predict prognosis and guide neoadjuvant therapy in esophageal squamous cell carcinoma.Fundamental research · 2026Article
- A 2.5-year-old obese girl with persistent hypoventilation post-pneumonia: when is it not just the lungs?Breathe (Sheffield, England) · 2026Article
- AEGIS reveals epitope- and clone-resolved convergence of CNS B and T cell autoreactivity in ROHHAD.bioRxiv : the preprint server for biology · 2026Article
- Case Report: First description of an intracranial "NET" in ROHHAD syndrome; time to rename to the ROHHAD-NeCT syndrome?Frontiers in endocrinology · 2026Article
- ROHHAD syndrome: an interdisciplinary perspective.Frontiers in pediatrics · 2026Article
- Management of Acquired Hypothalamic Dysfunction and the Hypothalamic Syndrome; It Is More Than Obesity.Endocrine reviews · 2025Review
- ROHHAD NET in Retrospect: Key Lessons Learned from Five Cases.Indian journal of pediatrics · 2025Article
- Rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation as a paraneoplastic syndrome in neuroblastoma: case report.Translational pediatrics · 2025Article
- Genetic evaluation of five patients with ROHHAD-NET using whole genome sequencing and optical genome mapping.Orphanet journal of rare diseases · 2025Article
- ROHHAD syndrome in an adult: presence of ZSCAN1 antibodies.ERJ open research · 2025Article
- Ten Years ofNeurology(R) neuroimmunology & neuroinflammation · 2025Article
- The Enigma That Is ROHHAD Syndrome: Challenges and Future Strategies.Brain sciences · 2024Review
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Authors and funding
16 authors.
Ana Beatriz SerafimFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.
Gemma Olivé-CireraFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0002-0880-4260
Ángel Ortega-GonzálezFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0003-2463-0085
Michael C KruerFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0002-1373-7891
Debra Weese-MayerFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0001-6061-220X
Casey M RandFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.
Carmen FonsFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.
Joaquín Alejandro Fernández-RamosFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.
Maria ClementeFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.
Mateus Mistieri SimabukuroFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0001-9243-3337
Emilia Katiane EmbiruçuFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.
Salvador Ibáñez-MicóFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.
Josep O DalmauFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0001-5856-2813
Francesc GrausFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0002-8924-8322
Thais ArmanguéFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0001-6192-6171
Lidia SabaterFrom the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.ORCID 0000-0001-8556-6166
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo report the association of zinc finger and SCAN domain containing 1 antibodies (ZSCAN1-abs) with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome in patients without tumor.
methodsPatients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay. In addition, samples from 149 patients with several inflammatory and noninflammatory disorders and 50 healthy participants served as controls.
resultsThirteen patients with ROHHAD syndrome were identified. Of these, we had paired serum/CSF samples from 6 patients and only serum from the other 7. Five of 6 patients (83.3%) with paired serum/CSF (4 children, 1 adult) had ZSCAN-abs only in CSF and 1 had antibodies in serum and CSF. ZSCAN1-abs were not detected in the remaining 7 patients with ROHHAD with only serum available or in any of the 199 control samples. DISCUSSION: Patients with ROHHAD syndrome should be investigated for the presence of ZSCAN1-abs in CSF. The antibodies do not necessarily predict the presence of a tumor. The detection of ZSCAN1-abs in an adult patient suggests that this condition also occurs beyond the pediatric age.
Indexed as
AutoantibodiesHypothalamic DiseasesAdolescentAdultAutonomic Nervous System DiseasesChildChild, PreschoolFemaleHumansHypoventilationMaleMiddle AgedObesitySyndromeTranscription FactorsYoung AdultAutoantibodiesTranscription Factors
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