Clinical Core (Core B) is crucial to this Udall Center. It serves as a major resource for Projects 1 and 3, and Cores C and D. It will facilitate and expedite the translation of scientific discoveries (Project 3) to the clinical arena thanks to its large collection of families (more than 850 kindreds are followed by Core B) with Parkinson disease (PD)/Parkinsonism assembled by Core 8 during the past 26 years (last 13 years under the Udall Center program). Core B will share resources and collaborate with other Udall Centers (Johns Hopkins University, University of Washington, University of Pennsylvania, University of California Los Angeles, Feinstein Institute for Medical Research North Shore-Long Island Jewish Health System, and The University of Miami). Core B will collaborate with Core A, including educational and outreach platforms, and with nearby Florida institutions, the University of Florida Shands Jacksonville and the University of Florida in Gainesville. Core B has a well established track record of supporting the NINDS initiatives such as Coriell Repository, PD-DOC, collaborative GWAS studies or iPS research, and utilizing the common date elements (CDE). Core B has long included minorities in its studies and plans to further expand this work. It will continue to expand already longitudinally followed families with PD/Parkinsonism, with autopsy proven a- synuclein and tau accumulation (Aims 1 and 2), and with both known and unknown genetic status (Aim 3). It will expand kindreds by initiating pedigree construction/genealogical work starting with autopsied index cases (novel and complex approach). It will collect CDE data from familial and sporadic cases, controls, and new families for studies conducted in Project 1, other Udall Centers, and by qualified institutions outside the Udall Centers network (Aim 3). Core B will closely work with Core C and Project 1 on research leading to new gene discoveries. Core B will collect blood and skin biopsy specimens for Projects 1 and 3. Core B is responsible for obtaining appropriate Mayo IRB Committee approvals and reporting. It communicates with research subjects after a gene discovery has been made. Core B assists Core D in obtaining autopsies (Aim 4). Core B will also support educational and outreach activities of Core A.

Public Health Relevance

Clinical Core (Core B) functions include recruitment of patients, families, and controls for clinical, genetic, and pathological studies of Parkinson disease (PD)/Parkinsonism. It has been very successful in identification of large families and thus assisting in major genetic discoveries of Mayo Udall Center grant. Core B will serve as a large clinical resource center. It hopes to further enhance knowledge of clinical and molecular genetics that will undoubtedly lead to discovery of curative therapies for PD/Parkinsonism.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center (P50)
Project #
Application #
Study Section
Special Emphasis Panel (ZNS1-SRB-J)
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Mayo Clinic Jacksonville
United States
Zip Code
Kertesz, A; Finger, E; Murrell, J et al. (2015) Progressive supranuclear palsy in a family with TDP-43 pathology. Neurocase 21:178-84
Kalia, Lorraine V; Lang, Anthony E; Hazrati, Lili-Naz et al. (2015) Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease. JAMA Neurol 72:100-5
Sundal, C; Baker, M; Karrenbauer, V et al. (2015) Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. Eur J Neurol 22:328-33
Fujioka, Shinsuke; Sanchez Contreras, Monica Y; Strongosky, Audrey J et al. (2015) Three sib-pairs of autopsy-confirmed progressive supranuclear palsy. Parkinsonism Relat Disord 21:101-5
Bieniek, Kevin F; van Blitterswijk, Marka; Baker, Matthew C et al. (2014) Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. JAMA Neurol 71:775-81
Bras, Jose; Guerreiro, Rita; Darwent, Lee et al. (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet 23:6139-46
Ross, Jay P; Rayaprolu, Sruti; Bernales, Cecily Q et al. (2014) SLC1A2 rs3794087 does not associate with essential tremor. Neurobiol Aging 35:935.e9-10
Heckman, Michael G; Elbaz, Alexis; Soto-Ortolaza, Alexandra I et al. (2014) Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging 35:266.e5-14
Angeles, Dario C; Ho, Patrick; Chua, Ling Ling et al. (2014) Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila. Hum Mol Genet 23:3157-65
Bailey, Rachel M; Howard, John; Knight, Joshua et al. (2014) Effects of the C57BL/6 strain background on tauopathy progression in the rTg4510 mouse model. Mol Neurodegener 9:8

Showing the most recent 10 out of 127 publications