The major role of the Clinical Core will be to identify, clinically characterize and expand as far as is genetically useful and clinically possible, families in which parkinsonism segregates. Efforts will also be made,to identify patients without an apparent family history of parkinsonism. Blood samples obtained will be passed to the Genetic Core using the Progeny computerized system for conveying clinical information. The Progeny system is already in place. Confidentiality of biographical information is maintained by coding the samples prior to passing them on to the Genetic Core. Many families with parkinsonism have already been identified by the PI and his co-investigators, and these cases are also enrolled in the Core. The Clinical Core Director's responsibilities will include obtaining appropriate IRB approval for these studies. Communication with the overall PI of the grant and Pl's of other Cores and Projects will be maintained by monthly conferences organized by the Clinical Core. These conferences will use the Mayo Clinic satellite system for direct communication with other sites involved in the Clinical Core activities. In addition, the Director of this Core will conduct weekly or biweekly conferences with the coordinators of the Core to discuss progress, train, and to resolve any difficulties that the coordinators encounter in their work. Subsidiary aims of the Core will be to organize neuropathologic examination of family members, both to confirm and delineate the diagnosis and also to obtain frozen tissue for molecular investigations. Following identification of causal genes for parkinsonism via familial linkage studies and their repercussions in human neuropathological specimens, a long-term objective of the Core is to orchestrate the use of such molecular targets in therapeutic trials in affected and """"""""at risk"""""""" human individuals.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center (P50)
Project #
5P50NS040256-08
Application #
7277632
Study Section
Special Emphasis Panel (ZNS1)
Project Start
Project End
Budget Start
2006-09-01
Budget End
2007-08-31
Support Year
8
Fiscal Year
2006
Total Cost
$431,180
Indirect Cost
Name
Mayo Clinic Jacksonville
Department
Type
DUNS #
153223151
City
Jacksonville
State
FL
Country
United States
Zip Code
32224
Verma, Manish; Callio, Jason; Otero, P Anthony et al. (2017) Mitochondrial Calcium Dysregulation Contributes to Dendrite Degeneration Mediated by PD/LBD-Associated LRRK2 Mutants. J Neurosci 37:11151-11165
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
Hassan, Anhar; Heckman, Michael G; Ahlskog, J E et al. (2016) Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms. Parkinsonism Relat Disord 22:102-5
Yue, M; Hinkle, K M; Davies, P et al. (2015) Progressive dopaminergic alterations and mitochondrial abnormalities in LRRK2 G2019S knock-in mice. Neurobiol Dis 78:172-95
Cornejo-Olivas, Mario R; Torres, Luis; Mata, Ignacio F et al. (2015) A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristics. Parkinsonism Relat Disord 21:444-8
Verma, Manish; Steer, Erin K; Chu, Charleen T (2014) ERKed by LRRK2: a cell biological perspective on hereditary and sporadic Parkinson's disease. Biochim Biophys Acta 1842:1273-81
Foroutan, Parastou; Murray, Melissa E; Fujioka, Shinsuke et al. (2013) Progressive supranuclear palsy: high-field-strength MR microscopy in the human substantia nigra and globus pallidus. Radiology 266:280-8
Jiang, Peizhou; Gan, Ming; Ebrahim, Abdul Shukkur et al. (2013) Adenosine monophosphate-activated protein kinase overactivation leads to accumulation of ýý-synuclein oligomers and decrease of neurites. Neurobiol Aging 34:1504-15
Whitwell, Jennifer L; Xu, Jia; Mandrekar, Jay et al. (2013) Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates. Neurobiol Aging 34:636-9
Sundal, Christina; Fujioka, Shinsuke; Van Gerpen, Jay A et al. (2013) Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord 19:869-77

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