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
Find out how our suite of autoimmune movement disorder testing can help diagnose PDE10A autoimmunity in patients who present with hyperkinetic movement disorders.
Learn more about how our movement disorders testing can help diagnose testicular cancer-associated paraneoplastic encephalitis.
Find out how we use glycine receptor Ab as a marker of stiff-person syndrome spectrum disorder.
Find out how our testing uses neurofascin 155 IgG4 antibodies as a specific marker of chronic inflammatory demyelinating polyradiculoneuropathy.
In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by William Morice II, M.D., Ph.D., president and CEO of Mayo Clinic Laboratories, to explore recent examples of diagnostic innovations that are improving patient care. Dr. Pritt also welcomes Matthew Schultz, Ph.D., a clinical biochemical geneticist at Mayo Clinic, to discuss how a novel test is delivering answers for patients with a recently identified peripheral neuropathy.
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.
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
Find out how we use glycine receptor Ab as a marker of stiff-person syndrome spectrum disorder.
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.