ABSTRACT: Purpose of Review: This article reviews the rapidly evolving spectrum of autoimmune neurologic disorders with a focus on those that involve the central nervous system, providing an understanding of how to approach the diagnostic workup of patients presenting with central nervous system symptoms or signs that could be immune mediated, either paraneoplastic or idiopathic, to guide therapeutic decision making.
Recent Findings: The past decade has seen a dramatic increase in the discovery of novel neural antibodies and their targets. Many commercial laboratories can now test for these antibodies, which serve as diagnostic markers of diverse neurologic disorders that occur on an autoimmune basis. Some are highly specific for certain cancer types, and the neural antibody profiles may help direct the physician’s cancer search.
Summary: The diagnosis of an autoimmune neurologic disorder is aided by the detection of an objective neurologic deficit (usually subacute in onset with a fluctuating course), the presence of a neural autoantibody, and improvement in the neurologic status after a course of immunotherapy. Neural autoantibodies should raise concern for a paraneoplastic etiology and may inform a targeted oncologic evaluation (eg, N-methyl-D-aspartate [NMDA] receptor antibodies are associated with teratoma, antineuronal nuclear antibody type 1 [ANNA-1, or anti-Hu] are associated with small cell lung cancer). MRI, EEG, functional imaging, videotaped evaluations, and neuropsychological evaluations provide objective evidence of neurologic dysfunction by which the success of immunotherapy may be measured. Most treatment information emanates from retrospective case series and expert opinion. Nonetheless, early intervention may allow reversal of deficits in many patients and prevention of future disability.
Address correspondence to Dr W. Oliver Tobin, Mayo Clinic, Department of Neurology, 200 First St SW, Rochester, MN 55905, firstname.lastname@example.org.
Relationship Disclosure: Dr Tobin receives research/grant support from the Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery. Dr Pittock serves as a consultant for and receives research/grant support from Alexion Pharmaceuticals, Inc; MedImmune; and the National Institutes of Health (RO1 NS065829-01).
Unlabeled Use of Products/Investigational Use Disclosure: Drs Tobin and Pittock discuss the unlabeled/investigation use of azathioprine, IV immunoglobulin (IVIg), mycophenolate mofetil, and rituximab for the treatment of autoimmune neurologic diseases.
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