PUSHING THE BOUNDARIES OF NEUROLOGY DIAGNOSIS

Dr. Bornhorst explains orexin testing's role in diagnosing type 1 narcolepsy and the significance of the test's availability through Mayo Clinic Laboratories.

A new episode of "Discussions with the Directors" is available on the topic of paraneoplastic testing - when is it appropriate and what is the way ahead. Listen Now!

This "Specialty Testing" webinar will discuss Cerebrospinal fluid (CSF), which has been used in research on Alzheimer's disease for decades. Only recently, have platforms been developed to standardize measurements across laboratories.

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.

Patients with autoimmune myelopathy present with subacute onset and rapid progression of spinal cord symptoms (weakness, gait difficulties, loss of sensation, neuropathic pain, and bowel and bladder dysfunction). Autoimmune myelopathy evaluation of serum and spinal fluid can assist in the diagnosis and aid distinction from other causes of myelopathy (multiple sclerosis, sarcoidosis, and vascular disease). Early diagnosis may assist in diagnosis of occult cancer, prompt initiation of immune therapies, or both.

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 standard test for the diagnosis of narcolepsy is the multiple sleep latency test (MSLT). The MSLT is a complex test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy.

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.