Mitchell Syndrome Research Proceeds at WashU with New Case Report

In order to know how to best treat Mitchell Syndrome, we still need to learn more about how it works. Dr. Zita Hubler, MD, PhD, is on the case. Dr. Hubler is a postdoc in the lab of Dr. Robert Bucelli, MD, PhD, and works in The Miller Lab in Washington University’s Department of Neurology. She and her colleagues conducted the first postmortem neuropathology evaluation of Mitchell Syndrome, utilizing tissue samples donated by patient #1, Mitchell Herndon. This case report, based on her research and appearing in Free Neuropathology, shows how this ultra-rare disease affects neurons and creates some of the neurological symptoms that patients with Mitchell Syndrome display. For the non-scientists among us, here is Dr. Hubler’s summary: “Importantly for our ongoing work, this neuropathologic examination clarified which cells are highly affected in Mitchell Syndrome including both neurons and oligodendrocytes. The information we learned is now guiding how we model Mitchell syndrome experimentally.”

We are grateful for Dr. Hubler and her fantastic neuropathology colleauges (in particular Kaleigh Roberts) for their ongoing committment to understanding this illness. The research will be helpful as scientists investigate possible treatments. With experts and teamwork like this, we can hopefully cure the rarest of rare diseases.

To read the Case Report, click here: https://pmc.ncbi.nlm.nih.gov/articles/PMC12519239/.