Autoimmune Cerebellar Ataxia, Autoimmune Encephalitis, Imbic Encephalitis, Stiff-person Syndrome
Conditions
Brief summary
Autoimmune encephalitis (AE) are characterized by subacute onset of memory deficits, altered mental status or psychiatric symptoms, frequently associated with seizures, inflammatory cerebrospinal fluid and in cases with prominent limbic involvement, typical magnetic resonance imaging. Several autoantibodies (Ab) may be detected in AE, although its detection is not mandatory to establish a diagnosis. These Ab mainly recognize different synaptic and cell-surface proteins in the central nervous system, and are thought to be pathogenic as they alter the normal location or function of its antigens. The primary trigger of the immune response is unknown for most of AE. In addition to acquired susceptibility, genetic predisposition may also be important in the pathogenesis of AE. Human leukocyte antigen (HLA) is the genetic factor most frequently associated with autoimmune diseases, due to its genetic complexity and key role in the adaptive immune response. The aim of the study is to describe HLA profile in three groups of autoimmune encephalitis and related disorders: anti-LGI1, anti-CASPR2 and anti-GAD neurological diseases.
Interventions
None listed
Sponsors
Hospices Civils de Lyon
Study design
Observational model
CASE_CONTROL
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
1. Presence of anti-LGI1, anti-CASPR2 or anti-GAD antibodies in serum or cerebrospinal fluid; 2. Clinical picture compatible with the detected antibody (limbic encephalitis in anti-LGI1; limbic encephalitis, neuromyotonia or Morvan's syndrome in anti-CASPR2; limbic encephalitis, cerebellar ataxia or stiff-person syndrome in anti-GAD
Exclusion criteria
\- Absence of complete clinicobiological data.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| HLA in autoimmune encephalitis and related disorders | 12 Months | Description of HLA alleles and haplotypes carrier frequencies in autoimmune encephalitis and related disorders |
| Clinical relevance of HLA in autoimmune encephalitis and related disorders | 12 Months | Description of clinical differences among patients regarding their HLA status |
Countries
France
Contacts
Primary ContactJerome HONNORAT, PhD
Backup ContactGéraldine PICARD
Outcome results
None listed