CORE B: CLINICAL RESOURCES CORE The clinical spectrum of parkinsonian disorders is varied and may represent a continuum of inter-related phenotypes with common etiologic factors. While the diagnosis of the most common form, Parkinson disease (PD) may be relatively straightforward, discriminating PD from other variations of the phenotype can be challenging. Several forms of parkinsonism demonstrate extensive clinical overlap, which can interfere with accurate diagnosis. Since the power of genetic studies relies heavily on the accuracy of diagnoses, it is important that clinicians with special interest and training in movement disorders be involved in diagnosing patients for these studies. The differential diagnosis of PD includes many disorders that can mimic aspects of PD, including essential tremor;drug-induced parkinsonism;other secondary parkinsonian syndromes (vascular parkinsonism, tumors and other mass lesions of the basal ganglia);normal pressure hydrocephalus;and other atypical parkinsonian syndromes (""""""""Parkinson plus"""""""") including progressive supranuclear palsy (PSP), multiple system atrophy (MSA), cortical basal degeneration (CBD). Some of these conditions (such as essential tremor or REM Sleep Behavior disorder) may represent early manifestations of a disease process leading to parkinsonism or PD. Expert evaluation by a movement disorders specialist and post-mortem neuropathologic diagnosis enhances accurate diagnosis of participants in genetic studies. This core builds on the clinical assessment expertise developed over the previous twelve years. While the main goal of is to provide resources for Udall Center projects, the clinical data, DNA samples and tissue resources collected will benefit other Udall Centers and PD researchers as well. Specifically, the core will provide the following services: 1) Enroll new participants and collect samples on existing participants as needed to support biomarker studies;2) Continue the longitudinal study of individuals with parkinsonism and unaffected controls participating in the tissue donation program;3) Continue operating the Udall Center Brain Bank.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center (P50)
Project #
5P50NS071674-03
Application #
8379524
Study Section
Special Emphasis Panel (ZNS1-SRB-E)
Project Start
Project End
Budget Start
2012-09-01
Budget End
2013-08-31
Support Year
3
Fiscal Year
2012
Total Cost
$234,697
Indirect Cost
$76,154
Name
University of Miami School of Medicine
Department
Type
DUNS #
052780918
City
Coral Gables
State
FL
Country
United States
Zip Code
33146
Noyce, Alastair J; Kia, Demis A; Hemani, Gibran et al. (2017) Estimating the causal influence of body mass index on risk of Parkinson disease: A Mendelian randomisation study. PLoS Med 14:e1002314
Wahlestedt, Claes (2017) Emerging Epigenetic Therapies in Neuroscience: Focus on Bromodomain-Containing Drug Targets. Neuropsychopharmacology 42:374
Belle, Kinsley; Shabazz, Francelethia S; Nuytemans, Karen et al. (2017) Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells. Neurosci Lett 637:201-206
Jansen, Iris E; Ye, Hui; Heetveld, Sasja et al. (2017) Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biol 18:22
Heilig, M; Barbier, E; Johnstone, A L et al. (2017) Reprogramming of mPFC transcriptome and function in alcohol dependence. Genes Brain Behav 16:86-100
Wang, Xin; Li, Nuomin; Xiong, Nian et al. (2017) Genetic Variants of Microtubule Actin Cross-linking Factor 1 (MACF1) Confer Risk for Parkinson's Disease. Mol Neurobiol 54:2878-2888
Xiong, Nian; Li, Nuomin; Martin, Eden et al. (2016) hVMAT2: A Target of Individualized Medication for Parkinson's Disease. Neurotherapeutics 13:623-34
Lubbe, Steven J; Escott-Price, Valentina; Gibbs, J Raphael et al. (2016) Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Hum Mol Genet 25:5483-5489
Esanov, Rustam; Belle, Kinsley C; van Blitterswijk, Marka et al. (2016) C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells. Exp Neurol 277:171-177
Hossein-Nezhad, Arash; Fatemi, Roya Pedram; Ahmad, Rili et al. (2016) Transcriptomic Profiling of Extracellular RNAs Present in Cerebrospinal Fluid Identifies Differentially Expressed Transcripts in Parkinson's Disease. J Parkinsons Dis 6:109-17

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