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.
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.
|Konno, T; Yoshida, K; Mizuno, T et al. (2017) Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol 24:37-45|
|Wang, Lisa; Heckman, Michael G; Aasly, Jan O et al. (2017) Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study. Neurobiol Aging 49:217.e1-217.e4|
|Koga, Shunsuke; Parks, Adam; Uitti, Ryan J et al. (2017) Profile of cognitive impairment and underlying pathology in multiple system atrophy. Mov Disord 32:405-413|
|Ando, Maya; Fiesel, Fabienne C; Hudec, Roman et al. (2017) The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity. Mol Neurodegener 12:32|
|Heckman, Michael G; Kasanuki, Koji; Diehl, Nancy N et al. (2017) Parkinson's disease susceptibility variants and severity of Lewy body pathology. Parkinsonism Relat Disord 44:79-84|
|Sanchez-Contreras, Monica; Heckman, Michael G; Tacik, Pawel et al. (2017) Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration. Mov Disord 32:115-123|
|(2017) 19th Workshop of the International Stroke Genetics Consortium, April 28-29, 2016, Boston, Massachusetts, USA: 2016.001 MRI-defined cerebrovascular genomics-The CHARGE consortium. Neurol Genet 3:S2-S11|
|Mackenzie, Ian R; Nicholson, Alexandra M; Sarkar, Mohona et al. (2017) TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron 95:808-816.e9|
|Sitek, Emilia J; Naro?a?ska, Ewa; Konieczna, Seweryna et al. (2017) Drawing analysis in the assessment of patients with neurodegenerative diseases. Neurology 88:218-219|
|Tipton, Philip W; Guthrie, Kimberly; Strongosky, Audrey et al. (2017) Spinocerebellar ataxia 15: A phenotypic review and expansion. Neurol Neurochir Pol 51:86-91|
Showing the most recent 10 out of 238 publications