James Mastrianni, MD PhD

Director, Center for Comprehensive Care & Research on Memory Disorders

Patient Calls: 773-702-6222
Fax: 773-834-5435

James Mastrianni, MD, PhD, is an expert in memory disorders and other neurodegenerative conditions. Working on a team of geriatricians, neurologists and neuropsychologists, Dr. Mastrianni provides diagnostic evaluation and long-term management of patients with Alzheimer's disease and related dementias. In a special clinic, he also evaluates patients referred to him with atypical dementias, which are unusual dementias for which a clear diagnosis cannot yet be determined. In addition to providing effective care for these patients, Dr. Mastrianni and his colleagues conduct clinical and basic science research to better understand and treat neurodegenerative diseases.

One of Dr. Mastrianni's research projects, funded by a $1.5 million National Institutes of Health (NIH) grant, focuses on understanding animal and human prion diseases, which are progressive and infectious neurodegenerative disorders, such as mad cow disease and Creutzfeldt-Jakob disease. Prion diseases share many similarities with more common neurodegenerative conditions, such as Alzheimer's disease, Parkinson’s disease, and Amyotrophic Lateral Sclerosis (ALS). Therefore, Dr. Mastrianni’s studies aimed at understanding and correcting the underlying defect in prion diseases may likely help researchers to better understand these more common diseases, as well.

In another collaborative study, Dr. Mastrianni uses cognitive screening assessments combined with advanced brain imaging to predict whether individuals with mild memory problems will develop Alzheimer’s disease in the future.

An accomplished author, Dr. Mastrianni has published more than 40 scientific articles, as well as several book chapters and reviews. He is an invited contributor for Neurology, Journal Watch Neurology, Genetics in Medicine, Trends in Molecular Medicine, and other prestigious medical journals. Dr. Mastrianni is the recipient of many awards and honors. Recently, he was named the Helen M. McLoraine Neuroscience Investigator of the Brain Research Foundation and was appointed as an expert reviewer for the ECRI Institute of the U.S. Agency for Health Care Research and Quality. He has been reappointed to a neuroscience advisory committee of the U.S. Food and Drug Administrations (FDA). Also a dedicated educator, Dr. Mastrianni teaches and mentors students, residents, and doctoral and post-doctoral students.

Education & Training
  • Fellowship: Howard Hughes Medical Institute (University of California San Francisco)
  • Fellowship: McGill University, Quebec, Canada
  • Fellowship: National Institute on Alcohol Abuse and Alcoholism (NIH), Rockville, MD
  • Residency: University of Pennsylvania
  • Internship: University of Pennsylvania
  • M.D.: McGill University, Montreal, Canada
  • Ph.D.: University of North Carolina
Board Certification
  • Neurology, American Board of Psychiatry and Neurology
  • Psychiatry, American Board of Psychiatry and Neurology
Clinical Interests
  • Neurology
  • Neurodegenerative conditions
  • Memory disorders
  • Alzheimer's disease
  • Prion diseases and atypical dementias
Research Interests
  • Dr. Mastrianni's research is aimed at understanding the human prion diseases. These unusual disorders have many similarities with Alzheimer's and other neurodegenerative diseases. As with those diseases, about 10% of patients with prion disease are genetically determined, while 80-90% are sporadic (ie. nonfamilial). In contrast to other neurodegenerative diseases, however, the prion diseases are transmissible. The underlying defect in all prion diseases is an abnormality of the three dimensional structure of the prion protein (PrP). In genetic forms of the disease, different mutations of the prion protein gene are associated with different clinical syndromes. These syndromes appear to be due to subtle differences in the conformation of the abnormal prion protein induced by the particular genetic mutation with which it is associated. How these conformations induce the specific disease presentations is being studied using human subjects with prion disease, transgenic mice with either human or mutated mouse PrP genes substituted for the normal (wild type) gene, or cell cultures of highly purified human neuronal cells. The nature of the conversion of normal PrP to the pathogenic PrP (PrPSc) is also being studied in these various systems using multiple approaches. Understanding the steps involved in converting normal PrP to PrPSc, or the cellular functions affected by the conversion, are necessary to fully elucidate the manner in which neurons die in prion disease, and will likely provide significant clues regarding neuronal death from other neurodegenerative diseases such as Alzheimer disease and ALS.
Society Memberships
  • American Academy of Neurology
  • American Association for the Advancement of Science
  • American Neurological Association
  • New York Academy of Science
  • Sigma Xi Scientific Research Study
  • Society for Neuroscience
  • World Federation of Neurology
Selected Publications