News Blog

Obscure Neurologic Diseases Discovered at Penn to be Focus of New Center

For a mysterious and complex disease that wasn't discovered until 2005 or formally defined until 2007, Anti-NMDAR Encephalitis has made the rounds, being featured on TV shows like Mystery Diagnosis and CBS3 Philadelphia (video below), Medical Mysteries in the New York Times and a best selling memoir in which a journalist chronicled her own descent due to the condition. Now, the Penn team that discovered a series of related conditions involving autoimmune responses impairing neurological function, is taking the program one step further by opening the Penn Center for Autoimmune Neurology.

The new center, developed through Penn’s department of Neurology, will be run by leaders in the field including center director Josep Dalmau, MD, PhD, adjunct professor of Neurology and Eric Lancaster, MD, PhD, assistant professor of Neurology. The clinic will focus on consultations and long-term care of patients with antibody mediated neurological diseases such as anti-NMDA receptor encephalitis. Physicians from outside hospitals can refer patients to the center, and patients with a positive antibody diagnosis can make appointments for follow-up care. Additionally, Penn neurologists will handle in-patient consults of those hospitalized at the Hospital of the University of Pennsylvania with autoantibody disorders. 

The specialty clinic will provide a platform to expand on translational research in the field; patients have the opportunity to directly benefit from laboratory and clinical research underway at the Perelman School of Medicine at Penn. As featured in a Philadelphia Inquirer story, since 2007, Dr. Dalmau and researchers have discovered 12 new antibodies leading to disease, at a rate of one to two new diseases per year. Patients from the clinic will have the opportunity to donate blood and spinal fluid samples to lab studies, as well as provide clinical information for epidemiologic studies.  The team hopes to create a tissue bank and database of volunteer patients, to help expand knowledge of the disease course and outcomes and to identify better treatment methods.

Dr. Dalmau and colleagues first recognized a form of autoimmune encephalitis affecting young women with ovarian teratoma in 2005, but it took several more years of work to determine the precise target of the immune response. Anti-NMDAR Encephalitis was first characterized by Penn's Dr. Dalmau and David R. Lynch, MD, PhD, associate professor of Neurology and Pediatrics, in 2007. One year later, the same investigators, in collaboration with Rita Balice-Gordon, PhD, professor of Neuroscience, characterized the main syndrome and provided preliminary evidence that the antibodies have a pathogenic effect on the NR1 subunit of the NMDA receptor in the Lancet Neurology in December 2008.

Anti-NMDAR Encephalitis is one of the most common forms of autoimmune encephalitis, and symptoms can include psychiatric symptoms, memory issues, speech disorders, seizures, involuntary movements, and loss of consciousness. The disease is often difficult to diagnosis, given the constellation of symptoms, but a test developed at the University of Pennsylvania is currently available worldwide to provide a diagnosis. The Penn team demonstrated that 38 percent of all patients (and 46 percent of females with the condition) were found to have a tumor, most commonly an ovarian tumor. A small percentage of people diagnosed with this mysterious neurological condition may only experience psychiatric changes - such as delusional thinking, hallucinations, and aggressive behavior. With appropriate treatment, approximately 81 percent of patients significantly improve and, with a recovery process that takes an average of 2 years, can fully recover.

As awareness grows about the various forms of autoimmune encephalitis via media and advocacy efforts this new Center hopes to serve as a central hub for patients and research on autoimmune neurological conditions.

Please call the Penn Center for Autoimmune Neurology at 215-746-8511 if you’d like to schedule an outpatient consultation.

You Might Also Be Interested In...

About this Blog

This blog is written and produced by Penn Medicine’s Department of Communications. Subscribe to our mailing list to receive an e-mail notification when new content goes live!

Views expressed are those of the author or other attributed individual and do not necessarily represent the official opinion of the related Department(s), University of Pennsylvania Health System (Penn Medicine), or the University of Pennsylvania, unless explicitly stated with the authority to do so.

Health information is provided for educational purposes and should not be used as a source of personal medical advice.

Blog Archives


Author Archives

Share This Page: