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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with antibodies against LGI1 | This is a non-interventional study involving biological samples (DNA). Samples are already stored in biobank repositories and collected as part of "good clinical practice" in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the "Centre de Ressources Biologiques des Hospices Civils de Lyon" (CRB-HCL)/NeuroBioTec (including tissue, cells or biological fluids) and genetic analysis for research purposes (e.g. involving genes related to the disease for which the patient was followed). Additionally, patients will be informed about the present study. | ||
| Patients with antibodies against CASPR2 | This is a non-interventional study involving biological samples (DNA). Samples are already stored in biobank repositories and collected as part of "good clinical practice" in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the "Centre de Ressources Biologiques des Hospices Civils de Lyon" (CRB-HCL)/NeuroBioTec (including tissue, cells or biological fluids) and genetic analysis for research purposes (e.g. involving genes related to the disease for which the patient was followed). Additionally, patients will be informed about the present study. | ||
| Patients with antibodies against GAD | This is a non-interventional study involving biological samples (DNA). Samples are already stored in biobank repositories and collected as part of "good clinical practice" in the diagnostic process of patients with suspected autoimmune encephalitis, meaning that the standard diagnostic and therapeutic approaches will not be altered in the selected study population. Patients have already gave explicit written consent for biological specimens sampling and storage at the "Centre de Ressources Biologiques des Hospices Civils de Lyon" (CRB-HCL)/NeuroBioTec (including tissue, cells or biological fluids) and genetic analysis for research purposes (e.g. involving genes related to the disease for which the patient was followed). Additionally, patients will be informed about the present study. |
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| Measure | Description | Time Frame |
|---|---|---|
| HLA in autoimmune encephalitis and related disorders | Description of HLA alleles and haplotypes carrier frequencies in autoimmune encephalitis and related disorders | 12 Months |
| Clinical relevance of HLA in autoimmune encephalitis and related disorders | Description of clinical differences among patients regarding their HLA status | 12 Months |
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Inclusion Criteria:
Exclusion Criteria:
- Absence of complete clinicobiological data.
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Patients with autoimmune encephalitis or related disorders whose samples were sent for analysis at Centre de Référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes, Lyon, for anti-neural antibody study and then stored at the biobank Neurobiotec
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Jerome HONNORAT, PhD | Contact | 4 72 35 78 08 | 33 | jerome.honnorat@chu-lyon.fr |
| Géraldine PICARD | Contact | 4 72 35 58 42 | 33 | geraldine.picard@chu-lyon.fr |
| Name | Affiliation | Role |
|---|---|---|
| Jerome HONNORAT, PhD | Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre de référence des syndromes neurologiques paranéoplasiques et encéphalites auto-immunes | Lyon | France |
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| ID | Term |
|---|---|
| D020274 | Autoimmune Diseases of the Nervous System |
| D016750 | Stiff-Person Syndrome |
| ID | Term |
|---|---|
| D009422 | Nervous System Diseases |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
| D013118 | Spinal Cord Diseases |
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blood collected at diagnosis time
| D002493 | Central Nervous System Diseases |
| D009468 | Neuromuscular Diseases |