Accelerating the field of autoimmune neurological testing
Improved diagnosis through expanded antibody analysis
Mayo Clinic Laboratories has met the challenge of identifying stiff-person spectrum disorders through the development and implementation of the world’s first commercially available evaluation that includes all relevant biomarkers for the disorder. Available exclusively at Mayo Clinic Laboratories, this assay allows physicians to more efficiently evaluate patients suspected of stiff-person disorder, enabling faster diagnosis and treatment to maximize recovery of this rare and oftentimes serious illness.
While disease presentation varies, 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.
By the numbers
of GLYRα1 positive patients were immunotherapy responsive (compared to 40% for general stiff-person syndrome)
of GLYα1 positive patients have PERM and can be treated accordingly
Data-driven, phenotypic testing
Our stiff-person spectrum disorders evaluation detects GAD65, GlyRα1, DPPX, and amphiphysin antibodies in one assay. This unique test is part of an evolving approach to testing for autoimmune neurological disorders using phenotypic-specific evaluations that include multiple antibodies known for their disease association.
When to consider testing
Consider testing for patients with subacute onset and a family/personal history of autoimmune disease. This testing would be appropriate if the patient shows one or more of the following symptoms:
A Test in Focus
Andrew McKeon, M.B., B.Ch., M.D., discusses Mayo Clinic Laboratories' stiff-person spectrum disorders assay, which includes evaluating for the four known antibodies that can be present in individuals on the spectrum — including patients with the severe PERM phenotype.
Learn more about how to order this evaluation at your institution.