Autoimmune encephalopathy

Diagnosing an increasingly recognized condition

Many cases of encephalopathy previously considered infectious are now recognized to have an autoimmune cause. In fact, based on a recent Mayo Clinic study, autoimmune encephalitis was found to be as common as infectious encephalitis.1  Our full suite of encephalopathy testing includes comprehensive evaluations, targeted antibody testing, and complementary assays to pinpoint causes and facilitate personalized therapy selection.

Autoimmune encephalopathy Test menu

Encephalopathy

Our comprehensive autoimmune encephalopathy evaluation is part of an evolving approach to testing for autoimmune neurological disorders using phenotype-specific evaluations that include multiple antibodies known for their disease association.

Key testing

Advantages

  • Evaluates for 20 antibodies with known association to autoimmune encephalopathy.
  • Facilitates diagnosis of autoimmune causes of new onset encephalopathy.
  • Evaluates for encephalopathy appearing during or after cancer therapy that is not explainable by metastasis or drug effect.
  • Results direct a focused search for cancer.

Infectious encephalopathy testing

Infectious causes of encephalitis can be equally devasting and must be ruled out to confidently prescribe treatment.

Highlights


GABA-A RECEPTOR ANTIBODIES

Our cell-based GABA-A receptor antibody test is recommended — in conjunction with other autoimmune neurology profiles — for patients who present with encephalopathy with seizures. These patients also typically have multifocal large cerebral temporal and extra-temporal T2 signal abnormalities without enhancement. GABA-A receptor antibodies are biomarkers of autoimmune encephalopathy, which may occur at any age and disproportionately affects children. GABA-A receptor antibodies are the third most common neuronal biomarker in children, behind only NMDA receptor and MOG antibodies. Because disease associated with the GABA-A receptor antibody is responsive to immunotherapy if treated early, accurate and timely testing is critical.

Key testing

Advantages

  • Specific phenotype (88% of patients have refractory seizures).
  • Evaluating GABA-A receptor improves diagnostic sensitivity thereby increasing physician confidence.
  • Provides reliable confirmation of GABA-A receptor-associated disease without the need for reflex testing.
  • 75% of GABA-A receptor-positive patients had a partial or complete recovery with proper treatment.4
  • Direct a search for cancer when appropriate (thymoma).

Additional testing

Can be ordered as a standalone test in addition to the autoimmune encephalopathy, autoimmune epilepsy, or pediatric CNS autoimmune evaluations in patients who present with encephalopathy with seizures.

Highlights


Kelch-like protein 11

The groundbreaking discovery that testicular cancer-associated paraneoplastic encephalitis is caused by Kelch-like protein 11 (KLHL11) autoantibodies — by a team of researchers that included Mayo Clinic scientists — paved the way for development of the world’s first evidence-based test to confirm KLHL11 antibodies. The test first screens patients for KLHL11 proteins through a mechanized, cell-based assay that uses cutting-edge, slide-scanner technology, then employs tissue immunofluorescence to confirm presence of the protein, which exudes a unique "sparkles" pattern.

Testicular cancer-associated paraneoplastic encephalitis, which is associated with testicular cancer in 70% of cases, is often misdiagnosed due to neurological syndrome symptoms preceding tumor detection. Early and accurate diagnosis of this syndrome is critical for disease stabilization and possible reversal.

Key testing

Advantages

  • Uses a mechanized, cell-based assay to first screen patients. If positive, testing reflexes to confirmatory, tissue immunofluorescence.
  • Positive results enable specific treatment protocols, such as cancer treatments and immunosuppressive therapies, to manage and treat the disease.

Highlights


Ma-2 antibody-associated encephalitis

We have optimized Ma2 antibody detection through the development of an innovative, enzyme-linked immunosorbent assay (ELISA). Positive test results can facilitate aggressive immunosuppressive therapies to combat the destructive immune response and help direct a search for an unidentified cancer, present in between 70% and 80% of cases, driving the disease process. Treatment of the cancer can further suppress the antibody response, with the combined therapies slowing the disease progress and potentially reversing symptoms.

Key testing

Advantages

  • Uses ELISA to detect Ma2 antibodies.
  • Offers increased sensitivity for improved antibody detection.
  • Helps direct search for associated cancers.
  • Facilitates treatment selection.

Additional testing

Ma2 testing used in conjunction with autoimmune/paraneoplastic encephalopathy and movement disorder panel evaluations provides the most comprehensive, up-to-date coverage of autoimmune/paraneoplastic antibodies available, equipping providers with assurance that nothing was missed. Because 32% of Ma2 patients present with excessive daytime sleepiness, assessing for the neuropeptide orexin can assist in confirming diagnosis.

Highlights


References
  1. Dubey, D., Pittock, S.J., Kelly, C.R., et al. Autoimmune encephalitis epidemiology and a comparison to infectious encephalitis. Ann Neurol. 83: 166-177. https://doi.org/10.1002/ana.25131
  2. Mandel-Brehm C, Dubey D, Kryzer TJ, et al. Kelch-like Protein 11 Antibodies in Seminoma-Associated Paraneoplastic Encephalitis. N Engl J Med. 2019; 381:47-54.
  3. Dubey D, Wilson MR, Clarkson B, et al. Expanded Clinical Phenotype, Oncological Associations, and Immunopathologic Insights of Paraneoplastic Kelch-like Protein-11 Encephalitis. JAMA Neurol. 2020 Aug 3; 77(11):1-10. Dalmau J, Graus F, Villarejo A, et al. Clinical analysis of anti-Ma2-associated encephalitis. Brain. 2004;127(Pt 8):1831-1844. doi:10.1093/brain/awh203. 
  4. O'Connor K, Waters P, Komorowski L, et al. GABAA receptor autoimmunity: A multicenter experience. Neurol Neuroimmunol Neuroinflamm. 2019;6(3):e552. Published 2019 Apr 4. doi:10.1212/NXI.0000000000000552
  5. Flanagan EP, Dubey D, Pittock SJ, et al. Autoimmune encephalitis epidemiology and a comparison to infectious encephalitis. Ann Neurol. 2018 Jan;83(1):166-177.
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