Research Faculty

630 West 168th Street
PH Stem 15-124
New York, NY 10032

Phone: 212-305-4531
Fax: 212-305-4548
Education and Training
1989, M.D., Ph.D. Washington University

Integrated Program
Muscle and Nerve

Dr. Elan Louis, Departments of Neurology and Epidemiology, Columbia University
Ann Moser, Kennedy Krieger Institute, Baltimore, MD
Dr. Steven Steinberg, Kennedy Krieger Institute, Baltimore, MD

Intl Collaborations
Dr. Wener Kovacs, Swiss Federal Institute of Technology Zürich (ETHZ), Switzerland

Training Activities
Pathobiology, Integrated
Phyllis L. Faust, M.D., Ph.D.
Associate Professor of Clinical Pathology & Cell Biology
Research Summary

We are studying the pathologic changes in human brain of patients with Essential Tremor (ET). Despite the prevalence of this neurologic disease, and strong evidence for a genetic contribution in many ET patients, the underlying pathogenesis of ET is poorly understood. Using a large number of brains acquired through the Essential Tremor Centralized Brain Bank at Columbia University (established by Dr. E. Louis), we have identified a cluster of morphological changes in the ET cerebellum that are predominantly centered around the Purkinje cell (PC), which appear to represent markers of the PC’s response to injury and distinguish ET cases from age-matched healthy controls. We are continuing to characterize novel pathologic changes associated with ET, including candidate molecules identified in several genome-wide association studies.

Our current understanding has led us to the postulate that PC degeneration is a core feature of ET, leading to slowly progressive axonal damage and remodeling of intracortical cerebellar connectivity. To begin to identify molecular events that may underlie this process, we are performing gene expression profiling on RNA isolated from cerebellar PCs of ET versus control autopsy brain. These studies will initiate a molecular expression analysis in ET, and begin to establish a reference for gene expression that is central to PC biology and aging in humans.

I maintain an active collaborative interest in understanding the pathobiology of peroxisomal disorders. We previously established a PEX2 mouse model for the human neuronal migration disorder Zellweger syndrome. The defective assembly of the peroxisomal organelle in this disease leads to widespread metabolic disarray in selected cellular lipid pathways and results in severe neurologic dysfunction. We characterized that peroxisomes are necessary for normal migration, differentiation and proliferation in the developing brain, with particularly prominent defects in postnatal cerebellar development. However, due to the essentially ubiquitous cellular distribution of peroxisomes, systemic metabolic defects also contribute to the abnormalities in brain. We have identified a complex relationship between peroxisome deficiency, dysregulation of cholesterol metabolism, and induction of endoplasmic stress that is apparently independent of peroxisome proliferator-activated receptor induced pathways in the peroxisome-deficient liver.
Service Activities

Neuropathology, including neurosurgical, autopsy and neuromuscular specimens
Selected Publications

Please click the PubMed link below:
Honors and Awards

Frederica Clarkson Award (valedictorian), Clarkson University, 1981

United States Public Health Service Medical Scientist Training Award, RSA GM-07200

Carl T. and Gerty F. Cori Prize in Biochemistry, Washington University, 1981

Spencer T. and Ann W. Olin Medical Scientist Fellow, Washington University, 1987

Howard Hughes Postdoctoral Research Fellowship for Physicians, 1993 - 1996

The American Association of Neuropathologists Weil Award, for the best paper on Experimental Neuropathology, June 1996

Basil O'Connor Starter Scholar Research Award, March of Dimes Foundation, 1998

Board Certification in Anatomic Pathology/Neuropathology, 1999

Committees , Council, and Professional Society Memberships

American Association of Neuropathologists
Society for Neuroscience

Essential Tremor, cerebellum, Purkinje cell ; peroxisome biogenesis, Zellweger syndrome

Contact the Pathology Webmaster at