Immunogenetic Characteristics in Autoimmune Encephalitis and Related Disorders: HLA Analysis
试验速览
- 阶段
- 不适用
- 入组人数
- 160
- 试验地点
- 1
- 主要终点
- HLA in autoimmune encephalitis and related disorders
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 18 Years 至 —(Adult, Older Adult)
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Presence of anti-LGI1, anti-CASPR2 or anti-GAD antibodies in serum or cerebrospinal fluid;
- •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
排除标准
- •Absence of complete clinicobiological data.
结局指标
主要结局
HLA in autoimmune encephalitis and related disorders
时间窗: 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
时间窗: 12 Months
Description of clinical differences among patients regarding their HLA status
次要结局
未报告次要终点
