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.
Dr. Mastrianni's research, which has received funding by the National Institutes of Health (NIH), the Howard Hughes Medical Institute, the Alzheimer’s Association, among many others, focuses on understanding animal and human prion diseases. These are progressive neurodegenerative disorders that are also transmissible. They include Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, fatal insomnia, and mad cow disease, among others. Prion diseases share many similarities with more common neurodegenerative conditions, such as Alzheimer's disease, Parkinson’s disease, and Amyotrophic Lateral Sclerosis (ALS). Thus, Dr. Mastrianni’s studies that are aimed at understanding and correcting the underlying defect in prion diseases help researchers to better understand these more common diseases, as well. In fact, Dr. Mastrianni’s recent research has identified a direct link between prion disease and Alzheimer’s disease. This is a major focus of study, as is developing a gene therapy against prion disease.
Dr. Mastrianni is an accomplished author who has published numerous scientific articles, 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. Most recently, he was named the Helen M. McLoraine Neuroscience Investigator of the Brain Research Foundation and was recently awarded the Frederic A. Gibbs Discovery Award for scientific achievement. He has been invited as an expert reviewer for the ECRI Institute of the U.S. Agency for Health Care Research and Quality and he has served on the Illinois Chapter of the Medical and Scientific Advisory panel for the Alzheimer’s Association and on a neuroscience scientific 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.
UCSF
San Francisco
- postdoc - molecular genetics prion diseases
1998
University of Pennsylvania
Philadelphia, PA
- Residency in Neurology
1993
McGill University School of Medicine
Montreal, Quebec, Canada
M.D.C.M. - Medicine
1989
University of North Carolina
Greenville, N.C.
Ph.D. - Pharmacology
1985
Albany College of Pharmacy
Albany N.Y.
B.S. Pharmacy - Chemistry/Pharmacy
1980
A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant.
A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant. Front Neurol. 2023; 14:1235909.
PMID: 37780723
Challenging Cases of Neurocognitive Disorders.
Challenging Cases of Neurocognitive Disorders. Semin Neurol. 2022 Dec; 42(6):742-751.
PMID: 36623535
A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report.
A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report. Front Neurol. 2022; 13:826676.
PMID: 35309588
Generation of human chronic wasting disease in transgenic mice.
Generation of human chronic wasting disease in transgenic mice. Acta Neuropathol Commun. 2021 09 26; 9(1):158.
PMID: 34565488
An atypical presentation of primary central nervous system lymphoma: A case report.
An atypical presentation of primary central nervous system lymphoma: A case report. Medicine (Baltimore). 2020 Sep 18; 99(38):e22062.
PMID: 32957327
A novel PRNP-G131R variant associated with familial prion disease.
A novel PRNP-G131R variant associated with familial prion disease. Neurol Genet. 2020 Aug; 6(4):e454.
PMID: 32637633
"Dual Disease" TgAD/GSS mice exhibit enhanced Alzheimer's disease pathology and reveal PrPC-dependent secretion of Aß.
"Dual Disease" TgAD/GSS mice exhibit enhanced Alzheimer's disease pathology and reveal PrPC-dependent secretion of Aß. Sci Rep. 2019 06 12; 9(1):8524.
PMID: 31189938
Anle138b prevents PrP plaque accumulation in Tg(PrP-A116V) mice but does not mitigate clinical disease.
Anle138b prevents PrP plaque accumulation in Tg(PrP-A116V) mice but does not mitigate clinical disease. J Gen Virol. 2019 06; 100(6):1027-1037.
PMID: 31045489
Impaired transmissibility of atypical prions from genetic CJDG114V.
Impaired transmissibility of atypical prions from genetic CJDG114V. Neurol Genet. 2018 Aug; 4(4):e253.
PMID: 30109268
IVIG Delays Onset in a Mouse Model of Gerstmann-Sträussler-Scheinker Disease.
IVIG Delays Onset in a Mouse Model of Gerstmann-Sträussler-Scheinker Disease. Mol Neurobiol. 2019 Apr; 56(4):2353-2361.
PMID: 30027340