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9 p, 474.5 KB |
Clinical and functional characteristics, possible causes, and impact of chronic cough in patients with cerebellar ataxia, neuropathy, and bilateral vestibular areflexia syndrome (CANVAS)
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Palones, Esther (Institut d'Investigació Biomèdica Sant Pau) ;
Curto Sánchez, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Plaza, Vicente (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Gonzalez-Quereda, L (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Segarra Casas, Alba (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Querol, Luis (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Bertoletti, Federico (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Rodriguez, María José (Institut d'Investigació Biomèdica Sant Pau) ;
Gallano, Pía (Institut d'Investigació Biomèdica Sant Pau) ;
Crespo Lessmann, Astrid (Universitat Autònoma de Barcelona. Departament de Medicina)
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is an hereditary autosomal recessive disease. Recent studies propose including chronic cough (CC) as a symptom of CANVAS. [...]
2023 -  10.1007/s00415-023-12001-9
Journal of Neurology, 2023
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2.
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7 p, 1.6 MB |
Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a missense variant
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Stee, Kimberley (Ghent University) ;
Van Poucke, Mario (Ghent University) ;
Pumarola i Batlle, Martí (Universitat Autònoma de Barcelona. Departament de Medicina i Cirurgia Animals) ;
Geerinckx, Lise (University of Ghent) ;
Van Soens, Iris (University of Liège) ;
Bhatti, Sofie F. M. (Ghent University) ;
Peelman, Luc (Ghent University) ;
Cornelis, Ine (Ghent University)
In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des Ardennes breed. [...]
2022 - 10.1111/jvim.16594
Journal of Veterinary Internal Medicine, Vol. 37 (november 2022) , p. 216-222
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3.
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21 p, 2.0 MB |
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
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Corral-Juan, Marc (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Casquero, Pilar (Hospital Mateu Orfila) ;
Giraldo-Restrepo, Natalia (Hospital Mateu Orfila) ;
Laurie, Steve (Centro Nacional de Análisis Genómico (Barcelona)) ;
Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Mateo-Montero, Raidili Cristina (Hospital Mateu Orfila) ;
Ispierto, Lourdes (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Vilas, Dolores (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Tolosa, Eduardo (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Volpini, Víctor (Institut d'Investigació Biomèdica de Bellvitge) ;
Álvarez, Ramiro (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Sánchez, Ivelisse (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Matilla-Dueñas, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Universitat Autònoma de Barcelona
Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. [...]
2022 - 10.1093/braincomms/fcac030
Brain Communications, Vol. 4 (february 2022)
2 documentos
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4.
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11 p, 2.7 MB |
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration
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Sancho, Paula (Centro de Investigación Príncipe Felipe (València)) ;
Andrés-Bordería, Amparo (Universitat de València) ;
Gorría-Redondo, Nerea (Complejo Hospitalario de Navarra) ;
Llano, Katia (Complejo Hospitalario de Navarra) ;
Martínez-Rubio, Dolores (Centro de Investigación Príncipe Felipe (València)) ;
Yoldi-Petri, María Eugenia (Complejo Hospitalario de Navarra) ;
Blumkin, Luba (Tel-Aviv University) ;
Rodríguez de la Fuente, Pablo (Complejo Hospitalario de Navarra) ;
Gil-Ortiz, Fernando (ALBA Laboratori de Llum de Sincrotró) ;
Fernández-Murga, Leonor (Hospital Arnau de Vilanova (Lleida, Catalunya)) ;
Sánchez-Monteagudo, Ana (Centro de Investigación Príncipe Felipe (València)) ;
Lupo, Vincenzo (Centro de Investigación Príncipe Felipe (València)) ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Espinós, Carmen (Centro de Investigación Príncipe Felipe (València)) ;
Aguilera-Albesa, Sergio (Navarrabiomed-Fundación Miguel Servet) ;
Universitat Autònoma de Barcelona
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). [...]
2021 - 10.3390/ijms22052505
International journal of molecular sciences, Vol. 22 (march 2021)
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6 p, 432.3 KB |
A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)
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Serrano, Natalia Lourdes (Hospital Garrahan) ;
De Diego, Victor (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cuadras, Daniel (Fundació Sant Joan de Déu) ;
Martinez Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa)) ;
Velázquez-Fragua, Ramón (Hospital Universitario La Paz (Madrid)) ;
López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Serrano, Mercedes (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Universitat Autònoma de Barcelona
We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. [...]
2017 - 10.1186/s13023-017-0707-0
Orphanet Journal of Rare Diseases, Vol. 12 (september 2017)
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21 p, 2.5 MB |
Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG) : Evidence for Hypoglycosylation-Driven Channelopathy
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Izquierdo-Serra, Mercè (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Martínez-Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa)) ;
López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Carrillo-García, Julia (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Edo, Albert (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Ortigoza-Escobar, Juan Darío (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
García Campos, Óscar (Hospital Virgen de la Salud (Toledo)) ;
Cancho-Candela, Ramón (Hospital Universitario Río Hortega (Valladolid)) ;
Carrasco-Marina, M. Llanos (Hospital Universitario Severo Ochoa) ;
González Gutiérrez-Solana, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Cuadras, Daniel (Fundació Sant Joan de Déu) ;
Muchart, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Montero, Raquel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Artuch, R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Fernández-Fernández, José M. (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Serrano, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding Ca2. [...]
2018 - 10.3390/ijms19020619
International journal of molecular sciences, Vol. 19 (february 2018)
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22 p, 578.7 KB |
Neurological Syndromes Associated with Anti-GAD Antibodies
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Dade, Maëlle (Sorbonne Université, Inserm, CNRS) ;
Berzero, Giulia (Neuroncology Unit, Italy) ;
Izquierdo, Cristina (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Giry, Marine (Sorbonne Université, Inserm) ;
Benazra, Marion (Sorbonne Université, Inserm) ;
Delattre, Jean-Yves (Sorbonne Université, Inserm) ;
Psimaras, Dimitri (Sorbonne Université, Inserm) ;
Alentorn, Agusti (Sorbonne Université, Inserm)
Glutamic acid decarboxylase (GAD) is an intracellular enzyme whose physiologic function is the decarboxylation of glutamate to gamma-aminobutyric acid (GABA), the main inhibitory neurotransmitter within the central nervous system. [...]
2020 - 10.3390/ijms21103701
International journal of molecular sciences, Vol. 21 (may 2020)
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15 p, 3.0 MB |
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia
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Zielen, Stefan (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Duecker, Ruth Pia (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Woelke, Sandra (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Donath, Helena (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Bakhtiar, Shahrzad (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Buecker, Aileen (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Kreyenberg, Hermann (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Huenecke, Sabine (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Bader, Peter (Goethe University. Division for Stem Cell Transplantation, Immunology and Intensive Care Unit) ;
Mahlaoui, Nizar (Necker Children's University Hospital. Pediatric Immunology-Hematology and Rheumatology Unit) ;
Ehl, Stephan (University of Freiburg. Institute for Immunodeficiency) ;
El-Helou, Sabine M. (Hannover Medical School. Department of Rheumatology and Immunology) ;
Pietrucha, Barbara (The Children's Memorial Health Institute. Department of Immunology) ;
Plebani, Alessandro (University of Brescia. Department of Clinical and Experimental Sciences) ;
van der Flier, Michiel (Radboud University Medical Center. Section Pediatric Infectious Diseases) ;
van Aerde, Koen (Radboud University Medical Center. Department of Pediatrics) ;
Kilic, Sara S. (Uludag University. Department of Pediatric Immunology and Rheumatology) ;
Reda, Shereen M. (Ain Shams University. Department of Pediatrics) ;
Kostyuchenko, Larysa (Western Ukrainian Specialized Children's Medical Centre) ;
McDermott, Elizabeth (Nottingham University Hospitals NHS Trust (Regne Unit)) ;
Galal, Nermeen (Cairo University Specialized Pediatric Hospital. Department of Pediatrics) ;
Pignata, Claudio (Federico II University. Department of Translational Medical Sciences) ;
Santos-Pérez, Juan Luis (Hospital Universitario Virgen de las Nieves (Granada)) ;
Laws, Hans-Juergen (Heinrich-Heine University. Department of Pediatric Oncology, Hematology and Clinical Immunology) ;
Niehues, Tim (Centre for Child and Adolescent Health (Krefeld, Germany)) ;
Kutukculer, Necil (Ege University. Department of Pediatric Immunology) ;
Seidel, Markus G. (Medical University Graz. Department of Pediatrics and Adolescent Medicine) ;
Marques, Laura (Porto Hospital Center. Pediatric Department) ;
Ciznar, Peter (Comenius University in Bratislava. Pediatric Department) ;
Edgar, John David M. (The Royal Hospitals & Queen's University) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
von Bernuth, Horst (Charité - Universitätsmedizin Berlin) ;
Krueger, Renate (Charité - Universitätsmedizin Berlin) ;
Meyts, Isabelle (University Hospitals Leuven (Bèlgica)) ;
Baumann, Ulrich (Hannover Medical School. Department of Paediatric Pulmonology, Allergy and Neonatology) ;
Kanariou, Maria ("Aghia Sophia" Children's Hospital. Department of Immunology and Histocompatibility) ;
Grimbacher, Bodo (Albert-Ludwigs University) ;
Hauck, Fabian (Ludwig-Maximilians-University Munich. Department of Pediatrics) ;
Graf, Dagmar (MVZ Dr. Reising-Ackermann Und Kollegen (Leipzig, Germany)) ;
Granado, Luis Ignacio Gonzalez (Universidad Complutense de Madrid) ;
Prader, Seraina (University Children's Hospital Zurich. Division of Immunology and Children's Research Center) ;
Reisli, Ismail (Necmettin Erbakan University. Department of Pediatrics) ;
Slatter, Mary (Newcastle University. Primary Immunodeficiency Group, Paediatric Immunology and Haematopoietic Stem Cell Transplantation) ;
Rodríguez-Gallego, Carlos (University Fernando Pessoa Canarias. Department of Immunology) ;
Arkwright, Peter D. (University of Manchester. Lydia Becker Institute of Immunology and Inflammation) ;
Bethune, Claire (University Hospitals Plymouth NHS Trust (Regne Unit)) ;
Deripapa, Elena (National Medical Research Center of Pediatric Hematology, Oncology and Immunology (Moscow, Russia)) ;
Sharapova, Svetlana O. (Belarusian Research Center for Pediatric Oncology, Hematology and Immunology. Research Department) ;
Lehmberg, Kai (University Medical Center Hamburg-Eppendorf. Division for Pediatric Stem Cell Transplantation and Immunology) ;
Davies, E. Graham (Great Ormond Street Hospital for Children (Londres)) ;
Schuetz, Catharina (Technische Universität Dresden. Department of Pediatrics) ;
Kindle, Gerhard (University of Freiburg. FREEZE Biobank) ;
Schubert, Ralf (Goethe University. Division of Allergology, Pulmonology and Cystic Fibrosis) ;
Universitat Autònoma de Barcelona
Patients with ataxia-telangiectasia (A-T) sufer from progressive cerebellar ataxia, immunodefciency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA defciency show more symptoms and may have a poorer prognosis. [...]
2021 - 10.1007/s10875-021-01090-8
Journal of Clinical Immunology, Vol. 41 (september 2021) , p. 1878-1892
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28 p, 1.6 MB |
The Classification of Autosomal Recessive Cerebellar Ataxias : a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
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Beaudin, Marie (Université Laval. Department of Medicine, Faculty of Medicine) ;
Matilla-Dueñas, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Soong, Bing-Weng (Taipei Veterans General Hospital. National Yang-Ming University School of Medicine) ;
Pedroso, Jose Luiz (Universidade Federal de São Paulo. Ataxia Unit, Department of Neurology) ;
Barsottini, Orlando G. (Universidade Federal de São Paulo. Ataxia Unit, Department of Neurology) ;
Mitoma, Hiroshi (Tokyo Medical University. Medical Education Promotion Center) ;
Tsuji, Shoji (International University of Health and Welfare) ;
Schmahmann, Jeremy D. (Harvard Medical School) ;
Manto, Mario (UMons. Service des Neurosciences) ;
Rouleau, Guy A. (McGill University) ;
Klein, Christopher (Mayo Clinic) ;
Dupre, Nicolas (Université Laval. Department of Medicine, Faculty of Medicine) ;
Universitat Autònoma de Barcelona
There is currently no accepted classification of autosomal recessive cerebellar ataxias, a group of disorders characterized by important genetic heterogeneity and complex phenotypes. The objective of this task force was to build a consensus on the classification of autosomal recessive ataxias in order to develop a general approach to a patient presenting with ataxia, organize disorders according to clinical presentation, and define this field of research by identifying common pathogenic molecular mechanisms in these disorders. [...]
2019 - 10.1007/s12311-019-01052-2
Cerebellum, Vol. 18 (july 2019) , p. 1098-1125
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