Philosophers and storytellers have long understood that to learn someone’s, or something’s, true identity—to discover its cause and how it works—is to gain some measure of control over it. In modern medicine, optimal treatment requires that a condition’s underlying mechanism be understood through accurate diagnosis.
That power of understanding a disease’s mechanism is especially important in autoimmune neurology, which focuses on the problems that arise when the body’s immune system goes beyond fighting infection and starts attacking the brain, spinal cord, and nerves. That type of attack can lead to the sudden onset of symptoms such as confusion, seizures, loss of vision, difficulties with swallowing or with balance, and changes in personality, movement, and speech.
Autoimmune neurological disorders can often be treated, sometimes with full restoration of function. However, because the symptoms mimic other conditions, autoimmune neurological disorders are frequently misdiagnosed, resulting in an irreversible loss of function.
Mayo Clinic Laboratories has the ability to identify, and therefore target, autoimmune neurological disorders. Our autoimmune neurology service offers evaluations for dozens of antibodies related to these disorders.
“Traditionally, health care providers might recognize disorders as being potentially immune-mediated, but we didn’t have any good biomarkers. Diagnosis was based upon clinical history-taking, imaging, and oftentimes the administration of some type of immunotherapy to see if a patient might get better,” says Sean Pittock, M.D., Co-Director of the Mayo Clinic Neuroimmunology Laboratory, and the Marilyn A. Park and Moon S. Park, M.D., Director of the Center for Multiple Sclerosis and Autoimmune Neurology.
“Autoimmune neurology evaluations can direct the physician toward not only understanding the condition’s underlying mechanism, but also initiating a treatment that potentially can reverse and possibly even cure the patient.”
“A service lab run by clinical neurologists”
Mayo Clinic developed the concept of disease-specific evaluations for suspected autoimmune neurological conditions. Our autoimmune neurology service uses the most up-to-date screening methodologies, including:
An indirect immunofluorescence assay, using a tissue or cell-based test. This testing is often used to screen for paraneoplastic antibodies and antibodies related to encephalitis.
A radioimmunoprecipitation assay, which can detect some ion channel antibodies, including the diagnostics for Lambert-Eaton syndrome and myasthenia gravis.
Mayo Clinic’s expertise with sophisticated screening technologies rests on the pioneering work of Vanda Lennon, M.D., Ph.D., a clinical immunologist and neuroscientist, who founded, and until 2015 directed, Mayo’s Neuroimmunology Laboratory. From the outset, Dr. Lennon teamed up with clinical neurologists and basic scientists.
“When I came to Mayo Clinic in 1978, I set up, as an evening activity in my research lab, the acetylcholine receptor-binding antibody assay for use by Mayo Clinic neurologists. Pretty soon, neurologists outside Mayo were mailing in serums,” Dr. Lennon says.
Since then, Mayo Clinic has used its strengths in laboratory research and clinical care to create the autoimmune neurology service. “For almost four decades, we have built expertise in developing diagnostics for autoimmune neurological diseases, reporting antibody test results, and seeing patients with these disorders. There is close collaboration between our laboratory and our world-class neurology department,” says Andrew McKeon, M.B., B.Ch., M.D., a co-director of the Neuroimmunology Laboratory.
Mayo Clinic physicians, scientists, and laboratory staff developed the evaluations used for the diagnosis of autoimmune epilepsy and autoimmune encephalopathy.
“Clinicians are used to looking for patterns in their clinical work, and we’re transferring that expertise into a clinical laboratory space,” Dr. McKeon says. “That’s not something that you learn overnight—it’s gained with experience over years.”
This interaction between the laboratory and the practice sets Mayo Clinic Laboratories apart from commercial laboratories. “We’re a clinical service laboratory that’s run by clinical neurologists. All reports on positive cases are organized and written by a clinical neurologist, who is then available to speak with referring clinicians, seven days a week,” Dr. Pittock says.
Advancing the Science
In addition to providing clinical laboratory services, Mayo Clinic’s autoimmune neurologists work to classify additional antibodies associated with autoimmune neurological disorders. “More than half of the antibodies we detect in the lab are unclassified. Each new discovery causes us to think about how we might optimize the assay to detect that antibody,” Dr. Pittock says.
“As a clinical laboratory, we are invested in understanding and discovery,” he adds. “We’re trying to identify novel biomarkers for the next patient who walks into a referring physician’s clinic. All our profits go back into patient care, discovery, and development. As a result, we are moving the field rapidly forward.”
Barbara J. Toman is a Senior Communications Specialist at Mayo Clinic Laboratories. She is also the science writer for Mayo’s Neurosciences Update, Orthopedic Surgery Update and Pediatrics Update newsletters, which help referring physicians to stay informed about Mayo’s treatment and research. Barbara has worked at Mayo Clinic since 2007. She enjoys international travel and cooking.