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.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center (P50)
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Special Emphasis Panel (ZNS1-SRB-E)
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University of Miami School of Medicine
Coral Gables
United States
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Hui, Ken Y; Fernandez-Hernandez, Heriberto; Hu, Jianzhong et al. (2018) Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease. Sci Transl Med 10:
Khorkova, Olga; Wahlestedt, Claes (2017) Oligonucleotide therapies for disorders of the nervous system. Nat Biotechnol 35:249-263
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
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
Barbier, E; Johnstone, A L; Khomtchouk, B B et al. (2017) Dependence-induced increase of alcohol self-administration and compulsive drinking mediated by the histone methyltransferase PRDM2. Mol Psychiatry 22:1746-1758
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
Giri, Anamika; Mok, Kin Y; Jansen, Iris et al. (2017) Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population. Neurobiol Aging 50:167.e11-167.e13
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

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