Autoimmune movement disorders
Testing to ensure the best outcomes for every patient
With differing causes and a variety of symptoms, autoimmune movement disorders and phenomena, which can be ataxic, hypokinetic, or hyperkinetic, are often associated with antibody biomarkers. Detection of these clues provides insights that direct individualized treatment protocols aligned with symptom severity, type of antibody discovered, and the presence and absence of cancer.
movement disorders Test menu
Movement Disorders
Our comprehensive autoimmune movement disorders panel is continuously updated to include newly discovered biomarkers and uses advanced testing approaches to detect actionable antibodies. Test results can help guide appropriate treatment, which can include oncologic therapy, immunotherapy, and symptomatic therapy.
Key testing
- MDC2 | Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
- MDS2 | Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum
Advantages
- Continuously updated to include clinically actionable antibodies most relevant to patients suspected of having autoimmune movement disorders.
- Includes several antibodies found only at Mayo Clinic Laboratories: Septin 5, Septin 7, and TRIM46.
- Advanced methodology provides optimized sensitivity and specificity.
- Can guide search for cancer and/or treatment selection.
Highlights
In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, and Div Dubey, M.B.B.S., a neurologist and co-director of the Clinical Neuroimmunology Laboratory at Mayo Clinic, explore the topic of peripheral neuropathy.
In this episode of “Answers From the Lab,” William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, is joined by Russ Lebovitz, M.D., Ph.D., CEO and co-founder of Amprion. They discuss their strategic collaboration and the innovative SAAmplify™–αSYN (CSF) test.
Mayo Clinic Laboratories and Amprion, a global leader advancing diagnosis of neurodegenerative disorders through seed amplification testing, today announced a collaboration to expand access to Amprion's SAAmplify–αSYN (CSF) test across the United States. The test (test ID ASYNC) is available today for clients of Mayo Clinic Laboratories through the collaboration that combines the expertise of both organizations to enhance patient care and improve diagnostic accuracy for neurodegenerative diseases.
The fifth episode of “Life of a Specimen” video series highlights Joy Carol’s treatment journey after Mayo Clinic Laboratories antibody testing identified a paraneoplastic autoimmune disorder as the cause of her life-threatening symptoms.
The fourth episode of “Life of a Specimen” video series explores the diagnosis enabled by antibody testing on Joy Carol’s cerebrospinal cord fluid and how her test result illuminated a path forward.
The third episode of “Life of a Specimen” video series discusses the integration that drives the development of innovative tests, including the movement disorders evaluation, at Mayo Clinic Laboratories.
Check out the second episode of “Life of a Specimen,” a video exploration of the complex path taken by patient samples through testing at Mayo Clinic Laboratories. In this episode, we hear about the quality processes and careful treatment given to each sample received for testing.
Check out the first episode of “Life of a Specimen,” a video series that examines the critical journey taken by patient samples through Mayo Clinic Laboratories testing. In this video, we learn about the profound impact of our testing on one extraordinary patient.
This microlearning will help learners develop the ability to include autoimmune movement disorders and related phenomena as part of the differential diagnosis, gain proficiency in categorizing autoimmune movement disorders based on phenotype and clinical progression, and identify effective strategies for diagnosing and managing autoimmune movement disorders.
Justin Fugelsang and Zach Pedowitz have never met. Yet both young men were diagnosed with a rare form of Charcot-Marie-Tooth disease, called sorbitol dehydrogenase (SORD) deficiency, and both found clarity through Mayo Clinic Laboratories' innovative SORD testing. Their journeys inspire resilience, as Justin has channeled his emotions into guitar playing, and Zach has embraced educational leadership.
Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.
Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.
Stiff-person spectrum disorders
While varied in presentation, the unifying clinical and electrophysiologic characteristic of stiff-person spectrum disorders — which include classical stiff-person syndrome, focal stiff-person forms (stiff-limb and stiff-trunk), and a severe encephalomyelitic form known as progressive encephalomyelitis with rigidity and myoclonus (PERM) — is central nervous system hyperexcitability. The most common IgG biomarker detected in the stiff-person spectrum is GAD65 antibody; however, glycine receptor (GlyRα1), DPPX, and amphiphysin antibodies are also found. Since each biomarker is associated with a unique prognosis and treatment plan, antibody detection is integral to enabling the best therapeutic response.
Key testing
- SPPC | Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Spinal Fluid
- SPPS | Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Serum
Advantages
- Exclusively available at Mayo Clinic Laboratories.
- Evaluates for the presence of GAD65, GlyRα1, DPPX, and amphiphysin antibodies, which are the four known antibodies associated with the disorder.
- Enables faster diagnosis.
- Guides treatment selection.
- Can direct a search for cancer.
Highlights
One summer morning, James Kypuros awoke to find his toes stiffened like claws. Then he started having falls, which culminated in losing his ability to walk or even sit up without help. Diagnosed with stiff-person syndrome, James wouldn’t find hope or relief until he was treated for glycine receptor antibody syndrome following specialized testing by Mayo Clinic.
Mayo Clinic Laboratories expanded movement disorders panel better identifies autoimmune conditions. Four recently identified biomarkers — septin-5, septin-7, neurochondrin, and adaptor protein-3B2 — have been added to the panel, and all four have been shown to respond to immunotherapy.
Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' stiff-person assay provides comprehensive evaluation for individuals on the spectrum of stiff-person syndrome. In addition to guiding treatment decisions, the assay can help confirm the most-severe stiff-person phenotype — known as PERM — which is associated with potential cancers.
A tenacious fighter, Joy Carol never lost hope that a mysterious condition that had stripped her of her ability to move would be identified. Hope turned into reality when a Mayo Clinic Laboratories test identified the cause of her illness and opened the door to successful treatment.
Ma2-directed illness
Mayo Clinic Laboratories has optimized Ma2 antibody detection through the development of an innovative, enzyme-linked immunosorbent assay (ELISA). Developed by an integrated team of Mayo Clinic neurologists and autoimmune neurology testing experts, our Ma2 ELISA evaluation provides increased sensitivity for improved antibody detection. 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.
Key testing
Advantages
- Uses ELISA to detect Ma2 antibodies.
- Offers increased sensitivity for improved antibody detection.
- Helps direct search for associated cancers.
- Facilitates treatment to halt the destructive immune response and potentially reverse symptoms.
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.
- ENC2 | Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
- ENS2 | Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Serum
- ORXNA | Orexin-A/Hypocretin-1, Spinal Fluid
Highlights
Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.
Divyanshu Dubey, M.B.B.S., explains how Mayo Clinic Laboratories' unique PDE10A and TRIM46 tests facilitate the management of central nervous system disorders triggered by cancers. Early diagnosis and treatment are important for managing disabling neurological symptoms and malignancy.
Sean Pittock, M.D., explains how Mayo Clinic Laboratories' novel Ma2 test aids diagnosis of autoimmune neurology disorders that are often caused by underlying cancer. Rapid diagnosis is key to preventing significant disability and disease.