Familial autoimmunity in neurological patients with GAD65 antibodies: an interview-based study.
Antibodies
Cerebellar ataxia
Genetics
Glutamic-acid decarboxylase
Limbic encephalitis
Stiff-person syndrome
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
15
12
2020
accepted:
22
01
2021
revised:
21
01
2021
pubmed:
6
2
2021
medline:
24
6
2021
entrez:
5
2
2021
Statut:
ppublish
Résumé
The common co-occurrence of autoimmune systemic diseases in patients with neurological disorders and antibodies against glutamic acid decarboxylase 65 (GAD65) suggests a shared genetic predisposition to these disorders. However, the nature and frequency of familial aggregation of autoimmune diseases, which might also support this hypothesis, have been poorly investigated. Herein, an exploratory, interview-based study was conducted with the aim of describing the autoimmune diseases displayed by the relatives of GAD65 neurological patients, their frequency, kinship, and potential patterns of inheritance. Patients were enrolled only if they had GAD65 antibodies in the cerebrospinal fluid and typical clinical phenotypes associated with such antibodies (stiff-person syndrome, cerebellar ataxia, limbic encephalitis, or temporal lobe epilepsy). A total of 65 patients were included in the study, and 44/65 (67.7%) reported family history of autoimmunity, including first-degree relatives in 36/65 (55.4%); the sibling recurrence risk (λ
Identifiants
pubmed: 33544221
doi: 10.1007/s00415-021-10424-w
pii: 10.1007/s00415-021-10424-w
doi:
Substances chimiques
Autoantibodies
0
Glutamate Decarboxylase
EC 4.1.1.15
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2515-2522Subventions
Organisme : Agence Nationale de la Recherche
ID : ANR-18-RHUS-0012
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