James A. Mastrianni

Research Summary
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.
Neurodegenerative Disease, Prion Diseases, Alzheimer Disease
  • UCSF, San Francisco, postdoc - molecular genetics prion diseases 11/1998
  • University of Pennsylvania, Philadelphia, PA, Residency in Neurology 06/1993
  • McGill University School of Medicine, Montreal, Quebec, Canada, M.D.C.M. Medicine 06/1989
  • University of North Carolina, Greenville, N.C., Ph.D. Pharmacology 06/1985
  • Albany College of Pharmacy, Albany N.Y., B.S. Pharmacy Chemistry/Pharmacy 06/1980
Biosciences Graduate Program Association
  1. 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. View in: PubMed

  2. 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. View in: PubMed

  3. 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. View in: PubMed

  4. 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. View in: PubMed

  5. 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. View in: PubMed

  6. 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. View in: PubMed

  7. 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. View in: PubMed

  8. 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. View in: PubMed

  9. 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. View in: PubMed

  10. Rezania K, Pytel P, Smit LJ, Mastrianni J, Dina MA, Highsmith WE, Dogan A. Systemic transthyretin amyloidosis in a patient with bent spine syndrome. Amyloid. 2013 Jun; 20(2):131-4. View in: PubMed

  11. Fan Y, McGowan S, Rubeiz H, Wollmann R, Javed A, Mastrianni J. Acute encephalopathy as the initial manifestation of CADASIL. Neurol Clin Pract. 2012 Dec; 2(4):359-361. View in: PubMed

  12. Cortes CJ, Qin K, Cook J, Solanki A, Mastrianni JA. Rapamycin delays disease onset and prevents PrP plaque deposition in a mouse model of Gerstmann-Sträussler-Scheinker disease. J Neurosci. 2012 Sep 05; 32(36):12396-405. View in: PubMed

  13. Leggett C, McGehee DS, Mastrianni J, Yang W, Bai T, Brorson JR. Tunicamycin produces TDP-43 cytoplasmic inclusions in cultured brain organotypic slices. J Neurol Sci. 2012 Jun 15; 317(1-2):66-73. View in: PubMed

  14. Jayadev S, Nochlin D, Poorkaj P, Steinbart EJ, Mastrianni JA, Montine TJ, Ghetti B, Schellenberg GD, Bird TD, Leverenz JB. Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype. Ann Neurol. 2011 Apr; 69(4):712-20. View in: PubMed

  15. Barria MA, Telling GC, Gambetti P, Mastrianni JA, Soto C. Generation of a new form of human PrP(Sc) in vitro by interspecies transmission from cervid prions. J Biol Chem. 2011 Mar 04; 286(9):7490-5. View in: PubMed

  16. Brown K, Mastrianni JA. The prion diseases. J Geriatr Psychiatry Neurol. 2010 Dec; 23(4):277-98. View in: PubMed

  17. Zou WQ, Puoti G, Xiao X, Yuan J, Qing L, Cali I, Shimoji M, Langeveld JP, Castellani R, Notari S, Crain B, Schmidt RE, Geschwind M, Dearmond SJ, Cairns NJ, Dickson D, Honig L, Torres JM, Mastrianni J, Capellari S, Giaccone G, Belay ED, Schonberger LB, Cohen M, Perry G, Kong Q, Parchi P, Tagliavini F, Gambetti P. Variably protease-sensitive prionopathy: a new sporadic disease of the prion protein. Ann Neurol. 2010 Aug; 68(2):162-72. View in: PubMed

  18. Mallik S, Yang W, Norstrom EM, Mastrianni JA. Live cell fluorescence resonance energy transfer predicts an altered molecular association of heterologous PrPSc with PrPC. J Biol Chem. 2010 Mar 19; 285(12):8967-75. View in: PubMed

  19. Yang W, Cook J, Rassbach B, Lemus A, DeArmond SJ, Mastrianni JA. A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP. J Neurosci. 2009 Aug 12; 29(32):10072-80. View in: PubMed

  20. Abalos GC, Cruite JT, Bellon A, Hemmers S, Akagi J, Mastrianni JA, Williamson RA, Solforosi L. Identifying key components of the PrPC-PrPSc replicative interface. J Biol Chem. 2008 Dec 05; 283(49):34021-8. View in: PubMed

  21. Gambetti P, Dong Z, Yuan J, Xiao X, Zheng M, Alshekhlee A, Castellani R, Cohen M, Barria MA, Gonzalez-Romero D, Belay ED, Schonberger LB, Marder K, Harris C, Burke JR, Montine T, Wisniewski T, Dickson DW, Soto C, Hulette CM, Mastrianni JA, Kong Q, Zou WQ. A novel human disease with abnormal prion protein sensitive to protease. Ann Neurol. 2008 Jun; 63(6):697-708. View in: PubMed

  22. Norstrom EM, Ciaccio MF, Rassbach B, Wollmann R, Mastrianni JA. Cytosolic prion protein toxicity is independent of cellular prion protein expression and prion propagation. J Virol. 2007 Mar; 81(6):2831-7. View in: PubMed

  23. Norstrom EM, Mastrianni JA. The charge structure of helix 1 in the prion protein regulates conversion to pathogenic PrPSc. J Virol. 2006 Sep; 80(17):8521-9. View in: PubMed

  24. Li X, Rowland LP, Mitsumoto H, Przedborski S, Bird TD, Schellenberg GD, Peskind E, Johnson N, Siddique T, Mesulam MM, Weintraub S, Mastrianni JA. Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. Ann Neurol. 2005 Dec; 58(6):858-64. View in: PubMed

  25. Norstrom EM, Mastrianni JA. The AGAAAAGA palindrome in PrP is required to generate a productive PrPSc-PrPC complex that leads to prion propagation. J Biol Chem. 2005 Jul 22; 280(29):27236-43. View in: PubMed

  26. Mastrianni JA, Roos RP. Wrinkles and folds of the prion protein. Neurology. 2003 Nov 11; 61(9):1168-9. View in: PubMed

  27. Korth C, Kaneko K, Groth D, Heye N, Telling G, Mastrianni J, Parchi P, Gambetti P, Will R, Ironside J, Heinrich C, Tremblay P, DeArmond SJ, Prusiner SB. Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene. Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8):4784-9. View in: PubMed

  28. Mastrianni J, Roos RP. "Out, damned spot! out, I say!...": issues related to prion decontamination. Neurology. 2002 Aug 27; 59(4):488-9. View in: PubMed

  29. Mastrianni JA, Capellari S, Telling GC, Han D, Bosque P, Prusiner SB, DeArmond SJ. Inherited prion disease caused by the V210I mutation: transmission to transgenic mice. Neurology. 2001 Dec 26; 57(12):2198-205. View in: PubMed

  30. Mastrianni JA, Roos RP. The prion diseases. Semin Neurol. 2000; 20(3):337-52. View in: PubMed

  31. Worrall BB, Rowland LP, Chin SS, Mastrianni JA. Amyotrophy in prion diseases. Arch Neurol. 2000 Jan; 57(1):33-8. View in: PubMed

  32. Poduslo SE, Yin X, Hargis J, Brumback RA, Mastrianni JA, Schwankhaus J. A familial case of Alzheimer's disease without tau pathology may be linked with chromosome 3 markers. Hum Genet. 1999 Jul-Aug; 105(1-2):32-7. View in: PubMed

  33. Mastrianni JA, Nixon R, Layzer R, Telling GC, Han D, DeArmond SJ, Prusiner SB. Prion protein conformation in a patient with sporadic fatal insomnia. N Engl J Med. 1999 May 27; 340(21):1630-8. View in: PubMed

  34. Mastrianni JA. The prion diseases: Creutzfeldt-Jakob, Gerstmann-Sträussler-Scheinker, and related disorders. J Geriatr Psychiatry Neurol. 1998; 11(2):78-97. View in: PubMed

  35. Patry D, Curry B, Easton D, Mastrianni JA, Hogan DB. Creutzfeldt-Jakob disease (CJD) after blood product transfusion from a donor with CJD. Neurology. 1998 Jun; 50(6):1872-3. View in: PubMed

  36. Hegde RS, Mastrianni JA, Scott MR, DeFea KA, Tremblay P, Torchia M, DeArmond SJ, Prusiner SB, Lingappa VR. A transmembrane form of the prion protein in neurodegenerative disease. Science. 1998 Feb 06; 279(5352):827-34. View in: PubMed

  37. Schuff N, Amend D, Ezekiel F, Steinman SK, Tanabe J, Norman D, Jagust W, Kramer JH, Mastrianni JA, Fein G, Weiner MW. Changes of hippocampal N-acetyl aspartate and volume in Alzheimer's disease. A proton MR spectroscopic imaging and MRI study. Neurology. 1997 Dec; 49(6):1513-21. View in: PubMed

  38. MacGowan DJ, Delanty N, Petito F, Edgar M, Mastrianni J, DeArmond SJ. Isolated myoclonic alien hand as the sole presentation of pathologically established Creutzfeldt-Jakob disease: a report of two patients. J Neurol Neurosurg Psychiatry. 1997 Sep; 63(3):404-7. View in: PubMed

  39. Mastrianni JA, Iannicola C, Myers RM, DeArmond S, Prusiner SB. Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. Neurology. 1996 Nov; 47(5):1305-12. View in: PubMed

  40. Spudich S, Mastrianni JA, Wrensch M, Gabizon R, Meiner Z, Kahana I, Rosenmann H, Kahana E, Prusiner SB. Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene. Mol Med. 1995 Sep; 1(6):607-13. View in: PubMed

  41. Mastrianni JA, Galetta SL, Raps EC, Liu GT, Volpe NJ. Isolated fascicular abducens nerve palsy and Lyme disease. J Neuroophthalmol. 1994 Mar; 14(1):2-5. View in: PubMed

  42. Telling GC, Scott M, Mastrianni J, Gabizon R, Torchia M, Cohen FE, DeArmond SJ, Prusiner SB. Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein. Cell. 1995 Oct 06; 83(1):79-90. View in: PubMed

  43. Mastrianni JA, Curtis MT, Oberholtzer JC, Da Costa MM, DeArmond S, Prusiner SB, Garbern JY. Prion disease (PrP-A117V) presenting with ataxia instead of dementia. Neurology. 1995 Nov; 45(11):2042-50. View in: PubMed

  44. Garris DR, Smith-West C, Mastrianni JA. A cryostat-freeze drying technique for enhanced visualization of catecholamine/indoleamine-containing neurons. Neurosci Lett. 1983 Aug 29; 39(2):113-8. View in: PubMed

  45. Mastrianni JA, Ingenito AJ. Acute tolerance to clonidine hypotension and bradycardia in normotensive and hypertensive rats. Pharmacol Res Commun. 1985 Sep; 17(9):865-72. View in: PubMed

  46. Mastrianni JA, Harris TM, Ingenito AJ. An intracerebroventricular perfusion system developed for the study of centrally acting antihypertensive drugs in the rat. J Pharmacol Methods. 1986 Aug; 16(1):63-72. View in: PubMed

  47. Kunos G, Mosqueda-Garcia R, Mastrianni JA, Abbott FV. Endorphinergic mechanism in the central cardiovascular and analgesic effects of clonidine. Can J Physiol Pharmacol. 1987 Aug; 65(8):1624-32. View in: PubMed

  48. Mastrianni JA, Ingenito AJ. On the relationship between clonidine hypotension and brain beta-endorphin in the spontaneously hypertensive rat: studies with alpha adrenergic and opiate blockers. J Pharmacol Exp Ther. 1987 Jul; 242(1):378-87. View in: PubMed

  49. Mastrianni JA, Palkovits M, Kunos G. Activation of brainstem endorphinergic neurons causes cardiovascular depression and facilitates baroreflex bradycardia. Neuroscience. 1989; 33(3):559-66. View in: PubMed

  50. Mastrianni JA, Abbott FV, Kunos G. Activation of central mu-opioid receptors is involved in clonidine analgesia in rats. Brain Res. 1989 Feb 13; 479(2):283-9. View in: PubMed