Stefan-M. Pulst, MD, Dr med
Professor and Chair of Neurology
Dr. Stefan Pulst is Professor and Chair of Neurology and a member of the Brain Institute 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.
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 has been a member of the AAN Science Committee since 2004 and Chair since 2006.
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 Clinical Practice 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.
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.
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.
- Figueroa KP, Minassian NA, Stevanin G, Waters MF, Garibyan V, Forlani S, Bűrk K, Brice A, Dűrr A, Papazian DM, Pulst SM: Frequency, genotype/phenotype correlations, and channel biophysics of KCNC3 mutations in 260 familial ataxia patients. Hum Mutation 2: 191-196 (2010).
- Huynh DP, Maalouf M, Silva AJ, Schweizer FE, Pulst, S.M. (2009) Dissociated fear and spatial learning in mice with deficiency of ataxin-2. PLoS One, 4(7):e6235.
- Liu J, Tang TS, Tu HP, Nelson O, Herndon E, Huynh DP, Pulst SM, Bezprozvanny, I (2009) Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci, 29:9148-9162.
- Al-Ramahi I, Pérez AM, Lim J, Zhang M, Sorensen R, de Haro M, Branco J, Pulst SM, Zoghbi HY, Botas J. (2007) dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1. PLoS Genet, 3:e234. Epub 2007 Nov 16.
- Willeumier K, Pulst SM, Schweizer FE (2006) Proteasome inhibition triggers activity-dependent increase in the size of the recycling vesicle pool in hippocampal neurons. J Neurosci, 26:11333-11341.
- Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JPA, Nolte D, Evidente VG, Fee D, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM (2006) Mutations in the voltage-gated potassium channel KCNC3 cause degenerative and developmental CNS phenotypes. Nature Genetics, 4:447-451.
- Pulst SM, Santos N, Wang D, Yang HY, Huynh D, Velazquez L, Figueroa KP (2005) Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1a channel modifies age of onset. Brain, 128:2297-2303.
- 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):2587-2597.
- Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Perlman S, Starkman S, Rouleau GA, Auburger G, Korenberg, J.R., Figueroa C, Sahba S. (1996) Identification of the SCA2 gene: Moderate expansion of a normally biallelic trinucleotide repeat. Nature Genetics, 40:269-276.