The purpose of this clinical core is to collect and store skin fibroblasts, from patients with sporadic and familial Parkinson's disease (PD) and from healthy age-matched controls, destined for future genetic, epigenetic, and stem cell reprogramming investigations. Serge Przedborski will direct this effort, including selection of the potential subjects and supervising collection of relevant clinical information. Carol Moskowitz will obtain informed consent, perform the skin biopsy and draw blood for genotyping. We anticipate performing approximately 180 skin biopsies per year based on our average number of PD patients seen at our outpatient clinic (2,922 patients/yr of whom 422 are new patients) and on Carol Moskowitz's prior recruitment rate for other projects involving skin biopsy. Samples will be processed in Serge Przedborski's laboratory according to standard protocols and stored in a long-term liquid nitrogen tank. Lorraine Clark will genotype all blood samples for known PD mutations and associated SNPs in the following genes: alpha-Synuclein, Parkin, DJ-1, PINK1, LRRK2, UCHL1, ATP13A2, GIGYF2, GBA, MAPI and APOE. Aliquots of cell lines will be made available to both inside and outside investigators. To request aliquots, a Web-based formal request procedure similar to the New York Brain Bank at Columbia University will be developed and posted on the PD-DOC website. In case of high demand for limited samples, preference will be given to the members of the Udall Center network.

Public Health Relevance

(Seeinstructions): Skin cells may harbor important information regarding the cause and mechanism of Parkinson's disease. By collecting such samples from thoroughly characterized patients and making these samples available to the research community, this Core provides a service important to public health and scientific advancement.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center (P50)
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National Institute of Neurological Disorders and Stroke Initial Review Group (NSD)
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Columbia University (N.Y.)
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Sun, Xiaotian; Aimé, Pascaline; Dai, David et al. (2018) Guanabenz promotes neuronal survival via enhancement of ATF4 and parkin expression in models of Parkinson disease. Exp Neurol 303:95-107
Guerreiro, Rita; Ross, Owen A; Kun-Rodrigues, Celia et al. (2018) Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study. Lancet Neurol 17:64-74
Wu, Di; Klaw, Michelle C; Connors, Theresa et al. (2017) Combining Constitutively Active Rheb Expression and Chondroitinase Promotes Functional Axonal Regeneration after Cervical Spinal Cord Injury. Mol Ther 25:2715-2726
Kun-Rodrigues, Celia; Ross, Owen A; Orme, Tatiana et al. (2017) Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiol Aging 49:214.e13-214.e15
Guerreiro, Rita; Escott-Price, Valentina; Darwent, Lee et al. (2016) Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiol Aging 38:214.e7-214.e10
Wu, Di; Klaw, Michelle C; Kholodilov, Nikolai et al. (2016) Expressing Constitutively Active Rheb in Adult Dorsal Root Ganglion Neurons Enhances the Integration of Sensory Axons that Regenerate Across a Chondroitinase-Treated Dorsal Root Entry Zone Following Dorsal Root Crush. Front Mol Neurosci 9:49
Robakis, Daphne; Cortes, Etty; Clark, Lorraine N et al. (2016) The effect of MAPT haplotype on neocortical Lewy body pathology in Parkinson disease. J Neural Transm (Vienna) 123:583-8
Louis, Elan D; Clark, Lorraine; Ottman, Ruth (2016) Familial Aggregation and Co-Aggregation of Essential Tremor and Parkinson's Disease. Neuroepidemiology 46:31-6
Chung, Sun Young; Kishinevsky, Sarah; Mazzulli, Joseph R et al. (2016) Parkin and PINK1 Patient iPSC-Derived Midbrain Dopamine Neurons Exhibit Mitochondrial Dysfunction and ?-Synuclein Accumulation. Stem Cell Reports 7:664-677
Pereira, Daniela B; Schmitz, Yvonne; Mészáros, József et al. (2016) Fluorescent false neurotransmitter reveals functionally silent dopamine vesicle clusters in the striatum. Nat Neurosci 19:578-86

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