CNTNAP2抗体—艾普蒂

The CNTNAP2 (Contactin-Associated Protein-Like 2) gene encodes a transmembrane protein critical for neuronal development, synaptic function, and cell adhesion. It belongs to the neurexin superfamily and is highly expressed in the brain, particularly in regions involved in language and cognition. CNTNAP2 mutations are linked to neurodevelopmental disorders, including autism spectrum disorder (ASD), epilepsy, and intellectual disability. Antibodies targeting CNTNAP2 are primarily studied in autoimmune neurological contexts. Autoantibodies against CNTNAP2 have been identified in autoimmune encephalitis, especially in patients with neuropsychiatric symptoms resembling those seen in genetic CNTNAP2-related disorders. These antibodies may disrupt cell-cell interactions, synaptic signaling, or neuronal connectivity, potentially contributing to neuroinflammation or dysfunction. Research suggests their presence in rare cases of autoimmune encephalitis with cognitive impairment, language deficits, or seizures, though clinical relevance remains under investigation. Detection typically involves cell-based assays (CBA) or tissue staining, often alongside other neural antibodies. Therapeutically, immunomodulatory treatments (e.g., corticosteroids, IVIG) may improve symptoms, supporting an autoimmune mechanism. Further studies are needed to clarify their pathogenic role, diagnostic utility, and association with specific neurological syndromes.