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.
- postdoc - molecular genetics prion diseases
University of Pennsylvania
- Residency in Neurology
McGill University School of Medicine
Montreal, Quebec, Canada
M.D.C.M. - Medicine
University of North Carolina
Ph.D. - Pharmacology
Albany College of Pharmacy
B.S. Pharmacy - Chemistry/Pharmacy
Generation of human chronic wasting disease in transgenic mice.
Wang Z, Qin K, Camacho MV, Cali I, Yuan J, Shen P, Greenlee J, Kong Q, Mastrianni JA, Zou WQ. Generation of human chronic wasting disease in transgenic mice. Acta Neuropathol Commun. 2021 Sep 26; 9(1):158.
An atypical presentation of primary central nervous system lymphoma: A case report.
Yuen CA, Mastrianni J, Ali S, Pytel P, Park DM, Rezania K. An atypical presentation of primary central nervous system lymphoma: A case report. Medicine (Baltimore). 2020 Sep 18; 99(38):e22062.
A novel PRNP-G131R variant associated with familial prion disease.
Alshaikh JT, Qin K, Zhao L, Mastrianni JA. A novel PRNP-G131R variant associated with familial prion disease. Neurol Genet. 2020 Aug; 6(4):e454.
"Dual Disease" TgAD/GSS mice exhibit enhanced Alzheimer's disease pathology and reveal PrPC-dependent secretion of Aß.
Qin K, Zhao L, Gregory C, Solanki A, Mastrianni JA. "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.
Anle138b prevents PrP plaque accumulation in Tg(PrP-A116V) mice but does not mitigate clinical disease.
Qin K, Zhao L, Solanki A, Busch C, Mastrianni J. 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.
Impaired transmissibility of atypical prions from genetic CJDG114V.
Cali I, Mikhail F, Qin K, Gregory C, Solanki A, Martinez MC, Zhao L, Appleby B, Gambetti P, Norstrom E, Mastrianni JA. Impaired transmissibility of atypical prions from genetic CJDG114V. Neurol Genet. 2018 Aug; 4(4):e253.
IVIG Delays Onset in a Mouse Model of Gerstmann-Sträussler-Scheinker Disease.
Gu H, Kirchhein Y, Zhu T, Zhao G, Peng H, Du E, Liu J, Mastrianni JA, Farlow MR, Dodel R, Du Y. IVIG Delays Onset in a Mouse Model of Gerstmann-Sträussler-Scheinker Disease. Mol Neurobiol. 2019 Apr; 56(4):2353-2361.
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016; 12(1):1-222.
Early Delivery of Misfolded PrP from ER to Lysosomes by Autophagy.
Cortes CJ, Qin K, Norstrom EM, Green WN, Bindokas VP, Mastrianni JA. Early Delivery of Misfolded PrP from ER to Lysosomes by Autophagy. Int J Cell Biol. 2013; 2013:560421.
In vivo parahippocampal white matter pathology as a biomarker of disease progression to Alzheimer's disease.
Solodkin A, Chen EE, Van Hoesen GW, Heimer L, Shereen A, Kruggel F, Mastrianni J. In vivo parahippocampal white matter pathology as a biomarker of disease progression to Alzheimer's disease. J Comp Neurol. 2013 Dec 15; 521(18):4300-17.