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.
(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.
|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|
|Louis, Elan D; Clark, Lorraine; Ottman, Ruth (2016) Familial Aggregation and Co-Aggregation of Essential Tremor and Parkinson's Disease. Neuroepidemiology 46:31-6|
|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.e7-10|
|Pereira, Daniela B; Schmitz, Yvonne; MÃ©szÃ¡ros, JÃ³zsef et al. (2016) Fluorescent false neurotransmitter reveals functionally silent dopamine vesicle clusters in the striatum. Nat Neurosci 19:578-86|
|Tambini, Marc D; Pera, Marta; Kanter, Ellen et al. (2016) ApoE4 upregulates the activity of mitochondria-associated ER membranes. EMBO Rep 17:27-36|
|Clark, L N; Ye, X; Liu, X et al. (2015) Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. Parkinsonism Relat Disord 21:943-7|
|Saunders-Pullman, Rachel; Alcalay, Roy N; Mirelman, Anat et al. (2015) REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers. Mov Disord 30:1834-9|
|AimÃ©, Pascaline; Sun, Xiaotian; Zareen, Neela et al. (2015) Trib3 Is Elevated in Parkinson's Disease and Mediates Death in Parkinson's Disease Models. J Neurosci 35:10731-49|
|Pasini, Silvia; Corona, Carlo; Liu, Jin et al. (2015) Specific downregulation of hippocampal ATF4 reveals a necessary role in synaptic plasticity and memory. Cell Rep 11:183-91|
|CebriÃ¡n, Carolina; Loike, John D; Sulzer, David (2015) Neuroinflammation in Parkinson's disease animal models: a cell stress response or a step in neurodegeneration? Curr Top Behav Neurosci 22:237-70|
Showing the most recent 10 out of 223 publications