Zbigniew K. Wszolek, M.D., a board-certified neurologist, clinical neurophysiologist and electrodiagnostic medicine consultant, is a consultant at Mayo Clinic in Florida and a professor of neurology at Mayo Clinic College of Medicine. Dr. Wszolek is also a courtesy professor of neurology at the College of Medicine at the University of Florida Health Science Center. His scientific interests are in the field of genetics of Parkinson's disease and related conditions for which he has received many national and international awards.
Recently he has worked with human-derived samples with known genetic mutations and signatures. He has participated in various induced pluripotent stem (iPS) cells projects since 2009 and has led the Mayo Clinic component of three iPS cells grants sponsored by the National Institute of Neurological Disorders and Stroke and the Mayo Clinic Center for Regenerative Medicine.
Dr. Wszolek's background includes graduating from the Medical University of Silesia in Katowice, Poland. His postgraduate training includes a neurology residency and fellowships in clinical neurophysiology, movement disorders and PET in Poland, the U.S. and Canada. Dr. Wszolek has published extensively in peer-reviewed journals and has spoken at national and international meetings. He holds several patents for discoveries related to the genetics of parkinsonism.
- In 2013, Dr. Wszolek co-discovered a guanine nucleotide-binding protein G(olf) subunit alpha Ga(olf) gene mutation for the African-American family with focal dystonia.
- In 2012, Dr. Wszolek co-discovered a novel dystonia gene mutation in the CDKN1A interacting zinc finger protein 1 (CIZ1) gene based on direct family studies and kindred studies.
- In 2012, gene mutations for the colony stimulating factor 1 receptor (CSF1R) gene were identified based on family cluster studies for hereditary diffuse leukoencephalopathy with spheroids, a condition associated with parkinsonism.
- In 2011, Dr. Wszolek and his colleagues identified two novel parkinsonism gene mutations, vacuolar protein sorting homolog 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1).
- In 2008, Dr. Wszolek discovered DCTN1 gene mutations for Perry syndrome.
- In 2004, based on kindred studies Dr. Wszolek conducted, LRRK2 gene mutations were discovered.
- In 1987, Dr. Wszolek identified the first kindred pallido-ponto-nigral degeneration (PPND) disease gene family that later significantly contributed to the discovery of microtubule-associated protein tau (MAPT) gene mutations.
Significance to patient care
Dr. Wszolek's research has produced a significant impact on understanding genetic factors in neurodegenerative conditions, including Parkinson's disease. This precise knowledge about mutation status allows better disease indication in those already affected. Proceeding with presymptomatic and prenatal genetic diagnoses in patients is also possible. These discoveries have led to the development of cellular and animal models for testing specific drugs and eventually will lead to curative therapies for particular genetic defects.
- Treasurer and founding officer of World Federation of Neurology, and International Association of Parkinsonism and Related Disorders, 2009-2011
- John A. Beals Award, Duval County Medical Society, 2004, 2010 and 2013
- Robert W. Hervey Distinguished Lectureship Award, Houston Methodist Neurological Institute, 2012
- Co-editor-in-chief, Parkinsonism and Related Disorders, 2008-present
- Associate editor, European Journal of Neurology, 2007-present