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Stefan M. Pulst, M.D., Dr. med.

Chair, Department of Neurology

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Clinical Details

Schedule An Appointment Clinical Office Address
(801) 585-7575 Clinical Neurosciences Center
175 North Medical Drive East
Salt Lake City, UT 84132


Stefan-M. Pulst, MD, Dr med is Professor and Chair of Neurology. His clinical and research interests focus on inherited diseases of the nervous system with an emphasis on spinocerebellar ataxias and ParkinsonĀ“s disease.

He received his medical school training at Medizinische Hochschule, Hannover (Germany) and at Harvard Medical School, Boston. After beginning neurology residency in Hannover, he moved to Boston and was senior and chief resident in the Longwood Neurology Program, Harvard Medical School, Boston. He then moved to San Francisco and did basic research on brain tumors at the UCSF brain tumor research center and in neurobiology in the Department of Physiology. Prior ro joining the faculty at the U. of Utah, he was Professor of Medicine, Neurology, and Neurobiology at the UCLA School of Medicine in Los Angeles.

Board Certification and Academic Information

Academic Departments Neurology - Professor
Board Certification American Board of Psychiatry & Neurology (Neurology)

Academic Profile

Research Interests

  • Amyotrophic Lateral Sclerosis
  • Neurogenetics
  • Neural Stem Cells
  • Translational Research
  • Parkinson Disease
  • RNA, Antisense
  • Epidemiologic Factors
  • Genomic and Personalized Medicine
  • Animal Model Development
  • Spinocerebellar Ataxias

Board Certification and Academic Information

Academic Departments Neurology - Professor
Board Certification American Board of Psychiatry & Neurology (Neurology)

Academic Office Locations

Academic Office Phone Number Academic Office Address
(801) 585-2886 Clinical Neurosciences Center
Department of Neurology
175 North Medical Drive East
Salt Lake City, UT 84132

Academic Bio

Dr. Stefan Pulst is Professor and Chair of the Department of Neurology at the University of Utah in Salt Lake City. He received his neurological training at the Medizinische Hochschule Hannover in Germany and in the Longwood Program at Harvard Medical School in Boston. He then joined Dr. Dennis Deen at the UCSF Brain Tumor Research Center to study in vitro cytotoxicity models and subsequently did a postdoctoral fellowship in neurobiology at UCSF, where he worked with Dr. Earl Mayeri on peptidergic neurotransmission in Aplysia. Prior to moving to the University of Utah in 2007, he was the Carmen and Louis Warschaw Chair in Neurology at Cedars-Sinai Medical Center in Los Angeles and Professor of Medicine, Neurology, and Neurobiology at the UCLA School of Medicine.

Research in the Pulst laboratory focuses on inherited diseases of the nervous system with an emphasis on spinocerebellar ataxias and Parkinson disease. His group identified the genes for SCA2 and SCA13, and as part of collaborative groups, the genes for SCA10 and Neurofibromatosis 2. Scientists in the laboratory are using transgenic and knockout mouse models to understand the molecular and cellular causes of these diseases and to develop novel therapies. Another interest relates to tumor suppressor genes controlling proliferation of Schwann cells. Recently, research in the group has branched out into understanding the genetic structure of human attention and the genetic epidemiology of Parkinson disease and degenerative ataxias in the state of Utah using the unique resources of the Utah Population Database.

Dr. Pulst has served on peer-review groups for the NIH and various international research agencies and was chair of the NIH Genetics of Health and Disease study section. He was the founding chair of the Section on Neurogenetics and the Basic Science Subcommittee of the American Academy of Neurology. He was a member of the AAN Science Committee and served as Chair from 2006 to 2011. He is now a member of the AAN Board of Directors.

Dr. Pulst served on the editorial board of Continuum, was past editor-in-chief of the international journal Current Genomics, and currently serves on the editorial boards of Nature Reviews Neurology, Journal of Molecular Neuroscience, Cerebellum, Neurogenetics, and Experimental Neurology. He has edited three books on Neurogenetics, the Genetics of Movement disorders, and most recently on the ataxias and spastic paraplegias.

Work in his laboratory is supported by grants from the National Institutes of Health, a project grant as part of the UCLA Udall Parkinson Disease Center and the US Army Neurofibromatosis research program. He has enjoyed mentoring scientists and neurologists on a number of KO8, K23, and other mentored awards.


Education History

Type School Degree
Postdoctoral Fellowship University of California - San Francisco
Postdoctoral Fellow
Other Training University of California, San Francisco
Visiting Research Neurologist, Brain Tumor Research Center,
Chief Resident Harvard Medical School
Chief Resident
Residency Harvard Medical School
Longwood Area Neurological Program and Clinical Fellow in Neurology
Residency Medizinische Hochschule Hanover
Internship Medizinische Hochschule Hanover
Other Training Harvard Medical School
Postgraduate Studies
Professional Medical Medizinische Hochschule Hanover


Selected Provider Publications

Journal Article

  1. Dai Y, Zheng K, Clark J, Swerdlow RH, Pulst SM, Sutton JP, Shinobu LA, Simon DK (2014). Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation. Hum Mol Genet, 23(3), 637-47.
  2. Matilla-Duenas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sanchez I (2014). Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum, 13(2), 269-302.
  3. Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schols L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G (2014). Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.LID - awu174 [pii]. Brain.
  4. Gibson S, Figueroa KP, Bromberg M, Pulst SM, Cannon-Albright L (2014). Familial clustering of ALS in a population-based resource. Neurology, 82(1), 17-22.
  5. Burk K, Strzelczyk A, Reif PS, Figueroa KP, Pulst SM, Zuhlke C, Oertel WH, Hamer HM, Rosenow F (2013). Mesial temporal lobe epilepsy in a patient with spinocerebellar ataxia type 13 (SCA13). Int J Neurosci, 123(4), 278-82.
  6. Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH (2013). Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study. Orphanet J Rare Dis, 8, 177.
  7. Tazen S, Figueroa KP, Kwan JY, Goldman J, Hunt A, Sampson J, Gutmann L, Pulst SM, Mitsumoto H, Kuo SH (2013). Amyotrophic Lateral Sclerosis and Spinocerebellar Ataxia Type 2 in a Family with Full CAG Repeat Expansions of ATXN2. JAMA, 70(10), 1302-4.
  8. Hansen ST, Meera P, Otis TS, Pulst SM (2013). Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. Hum Mol Genet, 15, 271-283.
  9. Hansen ST, Pulst SM (2013). Response to ethanol induced ataxia between C57BL/6J and 129X1/SvJ mouse strains using a treadmill based assay. Pharmacol Biochem Behav, 24(103(3)), 582-588.
  10. Hekman KE, Yu GY, Brown CD, Zhu H, Gervin K, Undlien DE, Stevanin G, Clark HB, Pulst SM, Bird T, White KP, Gomez CM (2012). Conserved eEF2 coding variant cosegregates with disease in SCA26 leading to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum Mol Genet, 21, 5472-5483.
  11. Scoles DR, Pflieger LT, Hansen ST, Thai KK, Pulst SM (2012). ETS1 regulates expression of ATXN2. Hum Mol Genet, 21, 5048-5065.
  12. Pulst SM, Otis T (2012). Repolarization matters: mutations in the Kv4.3 potassium channel cause SCA19/22. Ann Neurol, 72, 829-831.
  13. Kareus S, Figueroa KP, Cannon-Albright L, Pulst SM (2012). Shared Predispositions for Parkinsonism and Cancer: A population-based pedigree-linked study. Arch Neurol, 69, 1572-1577.
  14. Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM (2011). Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One, 6(3), e17811.
  15. Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, Strzelczyk A, Burk K, Brice A, Durr A, Papazian DM, Pulst SM (2010). KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutat, 31(2), 191-6.
  16. Huynh DP, Maalouf M, Silva AJ, Schweizer FE, Pulst SM (2009). Dissociated fear and spatial learning in mice with deficiency of ataxin-2. PLoS One, 4(7), e6235.
  17. Liu J, Tang TS, Tu H, Nelson O, Herndon E, Huynh DP, Pulst SM, Bezprozvanny I (2009). Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci, 29(29), 9148-62.
  18. Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Durr A, Brice A, Papazian DM, Pulst SM (2006). Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet, 38(4), 447-51.
  19. Willeumier K, Pulst SM, Schweizer FE (2006). Proteasome Inhibition Triggers Activity-Dependent Increase in the Size of the Recycing Vesicle Pool in Hippocampal Neurons. J Neurosci, 26, 11333-11341.
  20. Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP (2005). Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset. Brain, 128(Pt 10), 2297-303.
  21. Huynh DP, Scoles DR, Nguyen D, Pulst SM (2003). The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI. Hum Mol Genet, 12(20), 2587-97.
  22. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet, 14(3), 269-76.


  1. Pulst SM, Brice A eds (2007). The Ataxias. Churchill Livingston.
  2. Pulst SM (2005). Genetics in Neurology. Minneapolis: AAN Press.
  3. Pulst SM (2003). Genetics of Movement Disorders. San Diego: Academic Press.

Book Chapter

  1. Pulst SM (2012). The Inherited Ataxias. In Klein C (Ed.), Genetics in Neurology. Minneapolis: AAN.
  2. Pulst SM (2010). Spinocerebellar Ataxia Type 2 (updated 2010) in GeneReviews at In GeneReviews.


  1. Pulst SM, Pflieger LT (2014). Coexpression networks predict ataxia genes. JAMA Neurol, 71(7), 825-8.
  2. Fischbeck KH, Pulst SM (2011). Amyotrophic lateral sclerosis and spinocerebellar ataxia 2. Neurology, 76(24), 2050-1.


  1. Pulst SM (updated 2012). Spinocerebellar Ataxia Type 13 [Web]. Seattle: University of Washington. Available: GeneReviews at


  1. Pulst SM (2012). Compositions and Methods for Spinocerebellar Ataxia. U.S. Patent No. 8,163,483. Washington, D.C.:U.S. Patent and Trademark Office.
  2. Pulst SM (2009). Compositions and Methods for Spinocerebellar Ataxia. U.S. Patent No. 7,585,629. Washington, D.C.:U.S. Patent and Trademark Office.
  3. Pulst SM (2005). Nucleic Acid Encoding Spinocerebellar Ataxia-2 and Products Related Thereto. U.S. Patent No. 6,844,431. Washington, D.C.:U.S. Patent and Trademark Office.
  4. Pulst SM, Scoles DR (2005). Schwannomin-Binding-Proteins. U.S. Patent No. 6,960,650. Washington, D.C.:U.S. Patent and Trademark Office.
  5. Pulst SM (2004). Methods of Detecting Spinocerebellar Ataxia-2 Nucleic Acids. U.S. Patent No. 6,673,535. Washington, D.C.:U.S. Patent and Trademark Office.
  6. Pulst SM, Shibata H (2003). Ataxin-2 Binding Proteins. U.S. Patent No. 6,617,430. Washington, D.C.:U.S. Patent and Trademark Office.
  7. Pulst SM, Huyng DP (2003). Transgenic Mouse Expressing a Polynucleotide Encoding a Human Ataxin-2 Polypeptide. U.S. Patent No. 6,515,197. Washington, D.C.:U.S. Patent and Trademark Office.
  8. Pulst SM, Scoles DR (2002). Nucleic Acid Encoding Schwannomin-Binding-Proteins and Products Related Thereto. U.S. Patent No. 6,376,174. Washington, D.C.:U.S. Patent and Trademark Office.
  9. Pulst SM, Shibata H (2001). Nucleic Acids Encoding Ataxin-2 Binding Proteins. U.S. Patent No. 6,194,171. Washington, D.C.:U.S. Patent and Trademark Office.
  10. Pulst SM, Paul S, Dansithong W (In Press). Generation of recombinant adenoviral vector containing multi-reprogramming factors in a single cassette.

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