False-positive anti-neuronal nuclear antibody type 1 in a patient with RFC1 repeat expansion: Preventing “phenotype creep” in autoimmune neurology

A 61-year-old man was referred for evaluation of anti-neuronal nuclear antibody type 1 (ANNA-1, or “anti-Hu”)-associated sensory neuronopathy. Past medical history was significant for a right subcortical stroke involving the subthalamic nucleus three years prior. Family history was unremarkable. He reported insidiously progressive gait imbalance over 15 years, and worsening balance with hea d movement. He also noted mild dysarthria and left hemiparesis following his stroke. He had undergone plasma exchange one year prior to referral without clinical improvement.

Source: Journal of the Neurological Sciences - July 7, 2020 Category: Neurology Authors: Adrian Budhram, John R. Mills, Kamal Shouman, P. James B. Dyck, Anhar Hassan, Nicholas L. Zalewski Tags: Letter to the Editor Source Type: research