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Northwestern University Feinberg School of Medicine

Faculty Profile: Eileen Bigio, MD, Paul E. Steiner Research Professor of Pathology, investigates a variety of neurodegenerative diseases.

Eileen Bigio, MD

What are your research interests?

My main research interest is the field of neurodegenerative disease. For 20 years, I have engaged in studies of frontotemporal lobar degeneration (FTLD), carefully distinguishing pathologic subtypes, exploring the relationship of these subtypes with various clinical presentations, and discovering subtypes not previously recognized.

FTLD is present in up to 30% of cases of amyotrophic lateral sclerosis (ALS) and there are overlapping pathologic entities that present either with cognitive impairment or with a movement disorder.

Northwestern has been a perfect environment for me to study these diseases, with resources such as the National Institutes of Health-funded Mesulam Center for Cognitive Neurology and Alzheimer’s Disease, the Les Turner ALS Center and the Parkinson’s Disease and Movement Disorders Center.

What is the ultimate goal of your research?

The ultimate goal of all studies of neurodegenerative diseases is to prevent them, cure them or delay onset long enough to decrease the number of individuals affected.

To date, pathologic evaluation at autopsy is the gold standard of elucidating the underlying pathophysiologic condition of a patient with neurodegenerative disease. Imaging modalities with biomarkers for amyloid and tau proteins or cerebrospinal fluid biomarkers for tau and amyloid are excellent, but not perfect, at identifying a patient with Alzheimer’s disease prior to death.

But, there are no biomarkers for identifying a patient with FTLD. In addition, the brains of patients who died of a neurodegenerative condition often have multiple pathologies. To date, it is not possible to identify multiple pathologies by the use of biomarkers prior to the patient’s death.

In order for clinical trials of potential therapeutic interventions to be carried out effectively and the results interpreted most accurately, we must develop this capability. The brain autopsy has been instrumental in identifying this fact: Most neurodegenerative brains do not simply have one underlying pathologic condition, and treatment of one pathologic condition may not be effective treatment for the patient.

How did you become interested in this area of research?

I became interested in Alzheimer’s disease when I was a Pathology resident. The family of a wealthy deceased woman had been excluded from her will, and so they had her body exhumed for a brain autopsy to prove she had dementia. It was so dramatic!

Later, I became intrigued by the more uncommon forms of dementia, and published the first paper showing that one variety, called FTLD-U, was the single most common form of FTLD. Most cases of FTLD-U are now known to be FTLD-TDP, still the single most common form of FTLD.

Which honors are you most proud of and why?

I will be receiving the Meritorious Award for Contributions to Neuropathology at the upcoming June meeting of the American Association of Neuropathologists. This award recognizes my lifetime contributions to the field and is a satisfying award to receive at this point in my career.

What types of collaborations are you engaged in across campus (and beyond)?

We collaborate with M. Marsel Mesulam, MD, director of the Mesulam Center for Cognitive Neurology and Alzheimer’s Disease and chief of Behavioral Neurology in the Ken & Ruth Davee Department of Neurology — along with others — on studies of primary progressive aphasia. We’ve recently published in Annals of Neurology, Journal of Neuropathology and Experimental Neurology, Neurology and Alzheimer’s and Dementia.

We’ve worked with Hande Ozdinler, PhD, associate professor of Neurology in the Division of Neuromuscular Disease, on studies of upper motor neuron dysfunction in ALS, and recently published a paper in Acta Neuropathologica with these findings. We also have strong collaborations with Rosa Rademakers, PhD, professor of Neuroscience at Mayo Clinic Florida, on genetic influences in FTLD and have recent publications in Acta Neuropathologica and Lancet Neurology with her group.