Parkinson's disease: Genetic aspects and insights into physiopathology

Abstract

Event Abstract Back to Event Parkinson's disease: Genetic aspects and insights into physiopathology Alexis Brice1* 1 / UPMC Université Paris 06, UMR_S679, F-75005, Paris, France / 3AP-HP, Hôpital de la Salpêtrière, Service, INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, F-75013, Paris, France, France Parkinson's disease (PD) is the second most common age-related neurodegenerative disorder, characterized clinically by motor symptoms and pathologically by the selective loss of dopaminergic neurons in the substantia nigra and the appearance of Lewy bodies in surviving neurons. Although the etiology of PD remains elusive, the identification of rare monogenic forms in 5 – 10 % of PD patients has provided crucial insights into molecular mechanisms in disease pathogenesis. At least 13 loci and 9 genes have been identified to date. Mutations in the α-synuclein gene in rare families with autosomal dominant PD indicate that aggregation of this protein in Lewy bodies plays a crucial role in the pathogenesis of this disorder. Mutations in the leucine-rich repeat kinase 2 (LRRK2) have been identified as a much more frequent cause of autosomal dominant PD. Loss-of-function mutations in the parkin, PINK1 and DJ-1 cause autosomal recessive parkinsonism with early-onset. Their role in the proteasomal protein degradation pathway, the oxidative stress response and mitochondrial function shed light in understanding the convergent pathways leading to neurodegeneration. Keywords: autosomal dominant forms, autosomal recessive forms, Parkinson's disease Conference: 3rd Mediterranean Conference of Neuroscience , Alexandria, Egypt, 13 Dec - 16 Dec, 2009. Presentation Type: Oral Presentation Topic: Plenary lectures Citation: Brice A (2009). Parkinson's disease: Genetic aspects and insights into physiopathology. Front. Neurosci. Conference Abstract: 3rd Mediterranean Conference of Neuroscience . doi: 10.3389/conf.neuro.01.2009.16.012 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 18 Nov 2009; Published Online: 18 Nov 2009. * Correspondence: Alexis Brice, / UPMC Université Paris 06, UMR_S679, F-75005, Paris, France / 3AP-HP, Hôpital de la Salpêtrière, Service, INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, F-75013, Paris, France, F-75013, Paris, France, alexis.brice@upmc.fr Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Alexis Brice Google Alexis Brice Google Scholar Alexis Brice PubMed Alexis Brice Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.