The hypothesis that autoimmunity is a driving force behind many neurological diseases has
become an established view in adult and pediatric neurology. This is particularly true
for diseases of the central nervous system that are mediated by or at least associated
with autoantibodies against neuronal surface antigens, the group of "autoimmune
encephalitis".
This group of diseases has become increasingly important in adult neurology over the past
15 years and is now gaining importance in pediatric neurology. Since the first
description of a fulminant encephalitis with autoantibodies against the
N-methyl-D-aspartate (NMDA) receptor in 2007, researchers and physicians are beginning to
understand that many patients worldwide with encephalopathy or epileptic and psychiatric
symptoms may be suffering from previously unrecognized but treatable autoimmune diseases.
As a result, the new field of "autoimmune encephalitis" has been established and new
diagnostic tools are being developed. Despite a rapidly growing list of disease entities
- now ranging from relatively common diagnoses such as anti-NMDA receptor,
anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor, or
anti-leucine-rich glioma-inactivated 1 (LGI1) receptor encephalitis to rare entities
caused by antibodies against the metabotropic glutamate receptor 5 (mGuR5) - the field of
autoimmune encephalitis is still in its infancy. The field of autoimmune encephalitis
continues to evolve.
A better understanding of autoimmune encephalitis could improve the chances of treatment
and even cure for many patients with previously unexplained diagnoses. This is especially
true for antibody-negative autoimmune encephalitis and rare syndromes with only suspected
autoantibody associations, such as corea minor and other autoimmune movement disorders,
as well as ataxias, opsoclonus-myoclonus syndrome, antibody-associated motor
neuronopathies, and juvenile amyotrophic lateral sclerosis (ALS). The goal of this
registry is to gain new insights into the etiology of autoimmune encephalitis and
non-encephalitic overlap syndromes and to investigate the role of neuronal autoantibodies
in these and other neurological diseases.
The investigators will enroll patients with suspected neurologic autoimmune diseases into
the database. The database will record their medical history, cardinal symptoms of the
current disease, diagnostic results with emphasis on CSF analysis and imaging, as well as
final diagnosis, therapy, and disease course. Residual CSF samples from lumbar punctures
performed as part of the routine diagnostic workup are collected, cataloged, and stored
in a CSF biobank.
The following methods are used to detect and characterize anti-neuronal antibodies: [1]
highly sensitive immunofluorescence staining of fresh mouse brain (tissue-based assay,
TBA), [2] immunoprecipitation from mouse brain homogenates and analysis of bound proteins
by mass spectrometry, [3] flow cytometric methods (FACS, fluorescence-activated cell
sorting and cell sorting), isolation and cloning of specific monoclonal autoantibodies
from B-cells and plasma cells, and functional characterization studies.