| Zbigniew Wszolek | |
|---|---|
| Photo placeholder | |
| Affiliations | Mayo Clinic Florida |
| Country | USA |
| H-index | 150+ |
| ORCID | 0000-0002-8735-6274 |
| Research Focus | Parkinson's Disease, FTD |
| Mechanisms | Genetics, Alpha-synuclein |
Zbigniew K. Wszolek is a distinguished neurologist and neuroscientist at Mayo Clinic Florida, renowned for his work in characterizing familial neurodegenerative disorders. His clinical and genetic research has been pivotal in identifying the genetic basis of numerous movement disorders and dementias.
Wszolek's group played a crucial role in identifying mutations in PARK2 (parkin) and PARK6 (PINK1) as causes of early-onset familial Parkinson's disease. These discoveries established that mitochondrial dysfunction is a key pathogenic mechanism in PD.
Wszolek has been instrumental in characterizing the phenotypic spectrum of LRRK2 mutations, including the identification of the original LRRK2 G2019S founder mutation in families from Southern Europe and North Africa. His work has defined:
His research also encompasses frontotemporal dementia and related tauopathies, contributing to understanding the clinical and genetic heterogeneity of these conditions.
Wszolek's laboratory has been at the forefront of identifying genes responsible for familial forms of Parkinson's disease. His work has established:
A major focus has been understanding how different genetic mutations lead to different clinical phenotypes:
Wszolek has studied founder mutations in various populations:
This work has implications for genetic testing, counseling, and understanding disease pathogenesis.
Primary institutional affiliation:
Mayo Clinic Florida provides an ideal environment for Wszolek's work, with access to large patient cohorts and state-of-the-art genetic and neuropathological resources.