Neurology

Antibody against the GABA-A receptor is a biomarker of autoimmune encephalopathy that occurs across the lifespan, and disproportionately affects children. In this test-specific episode of the "Answers From the Lab" podcast, Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' GABA-A receptor antibody assay aids diagnosis of this serious but treatable condition.

In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.

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.

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

In August of 2021, 28-year-old Mike Knudson, a Twin Cities resident known for his vibrant and active lifestyle, set out on what he anticipated to be an adventurous hiking vacation to the picturesque Glacier National Park in Montana. Little did he know that this journey in nature would be the start of an unexpected life path.

In this “Hot Topic,” Divyanshu Dubey, M.B.B.S., associate professor of laboratory medicine and pathology and neurology at Mayo Clinic, discusses various clinical and paraclinical features of autoimmune encephalitis, autoimmune seizures, and epilepsy.

Identifying a precise genetic cause of hearing loss impacts clinical management. Nicole Boczek, Ph.D., and Melanie Meyer, M.S., CGC, explain how Mayo Clinic Laboratories' updated panel yields comprehensive results for optimal patient care.

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Department of Laboratory Medicine and Pathology at Mayo Clinic, is joined by Vanda Lennon, M.D., Ph.D., founder of the Neuroimmunology Laboratory and now director of the Neuroimmunology Research Laboratory at Mayo Clinic. Dr. Pritt and Dr. Lennon discuss the research and testing innovations that have led to critical advancements in the field of autoimmune neurology over the last few decades.

Tying together the expertise and curiosity of Mayo Clinic autoimmune neurology researchers with eager patients who have rare disease and are looking for answers, the innovative collaboration benefits both patients affected by MOGAD and scientists on the front lines of discovery.

Joe Mondloch and his wife Sue have existed in a grey area of uncertainty due to the unpredictable autoimmune neurological illness Joe has lived with for the last seven years. Rare, incurable, and debilitating, the newly classified disorder can be hard to manage. But thanks to information and direction provided by a rare disease advocacy group, the Mondlochs sought care at Mayo Clinic and received much more than answers.

Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC, explain how Mayo Clinic Laboratories' multigene panel helps identify the cause of hereditary ataxia. Precise diagnosis of this complex movement disorder helps guide patient treatment and family screening.

This Specialty Testing webinar will discuss the spectrum of autoimmune movement disorders and explore diagnosis and treatment.

In this month's "Hot Topic," Eoin Flanagan, M.B., B.Ch., reviews the recent diagnostic criteria for Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease (MOGAD).