Journal article

Investigations in GABAA receptor antibody-associated encephalitis.

  • Spatola M From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Petit-Pedrol M From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Simabukuro MM From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Armangue T From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Castro FJ From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Barcelo Artigues MI From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Julià Benique MR From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Benson L From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Gorman M From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Felipe A From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Caparó Oblitas RL From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Rosenfeld MR From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Graus F From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain.
  • Dalmau J From the Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.S., M.P.-P., T.A., M.R.R., F.G., J.D.), University of Barcelona, Spain; University of Lausanne (UNIL) (M.S.), Switzerland; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (M.P.-P., T.A., M.R.R., J.D., F.G.), Madrid, Spain; Neurology Service (T.A., J.D.), Hospital Sant Joan de Déu, Barcelona, Spain; Neurology Division, Hospital das Clínicas (M.M.S.), São Paulo University, Brazil; Hospital de Base (F.J.C.), Brasília, Brazil; Service of Neurology (M.I.B.A.) and Service of Immunology (M.R.J.B.), University Hospital of Son Espases, Mallorca, Spain; Department of Neurology (L.B., M.G.), Children's Hospital, Boston, MA; Pediatric Neurology Section (A.F.), Vall d'Hebron University Hospital, Barcelona, Spain; Hospital Nacional Edgardo Rebagliati Martins (R.L.C.O.), Lima, Peru; Department of Neurology (M.R.R., J.D.), University of Pennsylvania, Philadelphia; Service of Neurology (F.G., J.D.), Hospital Clínic; and Catalan Institution for Research and Advanced Studies (ICREA) (J.D.), Barcelona, Spain. Jdalmau@clinic.ub.es.
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  • 2017-02-17
Published in:
  • Neurology. - 2017
English OBJECTIVE
To report the clinical features, comorbidities, receptor subunit targets, and outcome in patients with anti-GABAA receptor (GABAAR) encephalitis.


METHODS
Clinical study of 26 patients, including 17 new (April 2013-January 2016) and 9 previously reported patients. Antibodies to α1, β3, and γ2 subunits of the GABAAR were determined using reported techniques.


RESULTS
Patients' median age was 40.5 years (interquartile range 48.5 [13.75-62.35] years; the youngest 2.5 months old; 13 female). Symptoms included seizures (88%), alteration of cognition (67%), behavior (46%), consciousness (42%), or abnormal movements (35%). Comorbidities were identified in 11 (42%) patients, including 7 tumors (mostly thymomas), 2 herpesvirus encephalitis (herpes simplex virus 1, human herpesvirus 6; coexisting with NMDAR antibodies), and 2 myasthenia without thymoma. Brain MRI was abnormal in 23 (88%) patients, showing in 20 (77%) multifocal, asynchronous, cortical-subcortical T2/fluid-attenuated inversion recovery abnormalities predominantly involving temporal (95%) and frontal (65%) lobes, but also basal ganglia and other regions. Immunologic or tumor therapy resulted in substantial improvement in 18/21 (86%) assessable patients; the other 3 (14%) died (2 status epilepticus, 1 sepsis). Compared with adults, children were more likely to have generalized seizures (p = 0.007) and movement disorders (p = 0.01) and less likely to have a tumor (p = 0.01). The main epitope targets were in the α1/β3 subunits of the GABAAR.


CONCLUSIONS
Anti-GABAAR encephalitis is characterized by frequent seizures and distinctive multifocal cortical-subcortical MRI abnormalities that provide an important clue to the diagnosis. The frequency of symptoms and comorbidities differ between children (more viral-related) and adults (more tumor-related). The disorder is severe but most patients respond to treatment.
Language
  • English
Open access status
green
Identifiers
Persistent URL
https://sonar.ch/global/documents/106247
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