RT Generic
T1 Current Status of Biomarkers in Anti-N-Methyl-D-Aspartate Receptor Encephalitis
A1 Ciano-Petersen, Nicolas Lundahl
A1 Cabezudo-Garcia, Pablo
A1 Muniz-Castrillo, Sergio
A1 Honnorat, Jerome
A1 Serrano-Castro, Pedro Jesus
A1 Oliver-Martos, Begona
K1 anti-NMDAR encephalitis
K1 biomarker
K1 rare diseases
K1 autoimmune encephalitis
K1 Cerebrospinal-fluid
K1 Anti-lgi1 encephalitis
K1 Potential biomarker
K1 Nmda
K1 Brain
K1 Diagnosis
K1 Pattern
K1 Cells
AB The discovery of biomarkers in rare diseases is of paramount importance to allow a better diagnosis, improve predictions of outcomes, and prompt the development of new treatments. Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a rare autoimmune disorder associated with the presence of antibodies targeting the GluN1 subunit of the NMDAR. Since it was discovered in 2007, large efforts have been made towards the identification of clinical, paraclinical, and molecular biomarkers to better understand the immune mechanisms that govern the course of the disease as well as to define predictors of treatment response and long-term outcomes. However, most of these biomarkers are still in an exploratory phase, with only a few candidates reaching the final phases of the always-complex process of biomarker development, mainly due to the low incidence of the disease and its recent description. Clinical and paraclinical markers are probably the most widely explored in anti-NMDAR encephalitis, five of them combined in a clinical score to predict 1 year outcome. On the contrary, soluble molecules, such as persistent antibody positivity, antibody titers, cytokines, and other inflammatory mediators, have been proposed as biomarkers of clinical activity, inflammation, prognosis, and treatment response, but further studies are required for their clinical validation including larger and more homogenous cohorts of patients. Similarly, genetic susceptibility biomarkers are still in the exploratory phase and, therefore, weak conclusions can for now only be achieved. Thus, further studies are warranted to define biomarkers and unravel the underlying mechanisms driving rare diseases such as anti-NMDAR encephalitis. Future international collaborative studies with prospective designs that enable the enrollment of large cohorts will allow for the identification and validation of novel biomarkers for clinical decision-making.
PB Mdpi
YR 2021
FD 2021-12-01
LK https://hdl.handle.net/10668/25367
UL https://hdl.handle.net/10668/25367
LA en
DS RISalud
RD Apr 5, 2025