Classification
Diseases of this type were first described in patients with known cancer, and given the description ‘paraneoplastic’. However, a deeper understanding of the science found that these diseases can also occur in patients without cancer. Additionally, identification of the pathogenic antibodies on a cellular level has led to a reclassification and renaming of many of these diseases. Paraneoplastic is still sometimes used to describe these diseases, but we now tend to describe these diseases as antibody mediated neurologic diseases. They are typically named according to the area of nervous system that is affected, the type of immune response, and/or the type of symptoms. For example, the most common disease we study is "Anti-NMDAR encephalitis". Where the prefix 'anti' refers to an autoimmune response against 'NMDA receptors' in the brain, which causes 'encephalitis' or swelling resulting in a disruption of normal brain signaling.
The diseases below can be classified according to the patient’s specific set of symptoms or syndrome (see tabs to the left), or can be described using characteristics of the antigen on a cellular level (as is common in scientific literature). The chart below also lists the most commonly associated cancers for each disease, but it important to keep in mind not all patients will have cancer.
Antibody |
Predominant Syndrome |
Type of Antigen |
Associated Cancer |
---|---|---|---|
NMDAR | Characteristic syndrome (see here) | Synaptic cell surface | Ovarian teratoma, Carcinomas |
AMPAR | Limbic encephalitis | Synaptic cell surface | Lung, Breast, Thymoma |
GABAbR | Limbic encephalitis | Synaptic cell surface | Lung, Neuroendocrine |
LGI1 | Limbic encephalitis, Faciobracial dystonic seizures | Synaptic cell surface | Thymoma |
CASPR2 |
Encephalitis, Morvan Syndrome, Acquired neuromyotonia | Axonal cell surface | Thymoma |
mGluR1 | Paraneoplastic Cerebellar Degeneration | Synaptic cell surface | Hodgkin's lymphoma |
mGluR5 | Limbic encephalitis | Synaptic cell surface | Hodgkin's lymphoma |
DPP6 / DPPX | Encephalitis with nervous sytem and GI hyper-excitability | Synaptic cell surface | None |
GABAaR | Encephalitis with prominent seizures / status epilepticus | Synaptic cell surface | Infrequent |
GAD65 | Stiff-person syndrome, seizures, type 1 diabetes, encephalitis | Intracellular synaptic | Usually none |
GlyR | Stiff-person syndrome, PERM | Synaptic cell surface | Infrequent |
DNER (previous Tr) | Paraneoplastic Cerebellar Degeneration | Cell surface | Hodgkin's lymphoma (high risk) |
Yo (PCA-1) | Paraneoplastic Cerebellar Degeneration | Intracellular |
Ovary, Breast, Gynecologic |
Amphiphysin | Stiff-person syndrome, encephalomyelitis, Paraneoplastic Cerebellar Degeneration | Intracellular synaptic | Breast, small cell lung cancer |
Zic4 | Paraneoplastic Cerebellar Degeneration | Synaptic cell surface | Small cell lung cancer |
VGCC | LEMS, Paraneoplastic Cerebellar Degeneration | Synaptic cell surface | Small cell lung cancer, lymphoma |
Hu (ANNA-1) | Encephalomyelitis, Paraneoplastic Cerebellar Degeneration, Sensory-predominant neuronopathy | Intracellular | Small cell lung cancer, other |
Ri (ANNA-2) | Paraneoplastic Cerebellar Degeneration, Brainstem encephalitis, opsoclonus-myoclonus | Intracellular | Breast, gynecological, small cell lung cancer |
CV2/CRMP5 | Encephalomyelitis, Paraneoplastic Cerebellar Degeneration, Chorea, Peripheral neuropathy | Intracellular synaptic | Small cell lung cancer, thymoma, other |
Ma proteins | Limbic encephalitis, hypothalamic, brainstem encephalitis, Paraneoplastic Cerebellar Degeneration (infrequently) | Intracellular | Testes, lung, other |
D2R | Basal ganglia encephalitis | Synaptic cell surface | Infrequent |
Iglon5 | Sleep disorder, Neurodegeneration | Cell surface | None |