PUSHING THE BOUNDARIES OF NEUROLOGY DIAGNOSIS

The clinical presentations, evaluation (including diagnostic antibody testing), and treatment of autoimmune pediatric CNS disorders, including encephalitides and myelopathies.

Divyanshu Dubey, M.B.B.S. gives an overview of this test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.

Autoimmune encephalitis and myelitis is increasingly recognized as a cause of CNS disease in children and teens. Andrew McKeon, M.B., B.Ch., M.D, gives an overview of this test available through Mayo Clinic Laboratories. He discusses when this testing should be ordered, how this testing compares to other testing approaches, and what clinical action can be taken due to the results of this testing.

Mayo Clinic Laboratories is the only laboratory in the world to offer testing for a novel form of autoimmune meningoencephalomyelitis. Known as autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy, the condition was identified by Mayo Clinic in 2016. The GFAP antibody test is offered as part of Mayo Clinic Laboratories’ encephalitis and myelopathy evaluations.

Antibodies to aquaporin-4 and myelin oligodendrocyte glycoprotein (MOG) are recently described biomarkers seen in a subset of atypical optic neuritis which have revolutionized our understanding of the condition. In this “Hot Topic,” my colleague, Dr. John Chen, will review these advances and how they impact the clinical care of our patients with optic neuritis.

The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.

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.

A movement disorder might be caused by the body’s immune system, which is meant to fight infections, suddenly attacking the brain. Fortunately, an “autoimmune movement disorder” can often be treated—once its cause is discovered.

Necrotizing autoimmune myopathy (NAM) is a serious but rare muscle disease strongly associated with autoantibodies to either the protein signal recognition particle (SRP) or the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). NAM typically manifests with subacute proximal limb muscle weakness and persistently elevated serum creatine kinase (CK) concentrations, but slower onsets can occur and complicate diagnosis.

Andrew McKeon, M.D., M.B., B.Ch., and Sean J. Pittock, M.D., neurologists and co-directors of the Mayo Clinic Neuroimmunology Laboratory in Rochester, Minnesota, answer questions about Mayo Clinic's new test.

For people with encephalitis, rapid treatment of their acute brain inflammation is critical for avoiding devastating physical and cognitive deficits. But appropriate treatment requires identifying the culprit causing the symptoms.

Mayo Clinic has launched a first-in-the-U.S. clinical test that will help patients who recently have been diagnosed with an inflammatory demyelinating disease but may be unsure of the exact disorder.