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Minerva Medica 2017 October;108(5):438-47

DOI: 10.23736/S0026-4806.17.05246-6

Copyright © 2017 EDIZIONI MINERVA MEDICA

language: English

Structural genomic variations and Parkinson’s disease

Sara BANDRÉS-CIGA 1, Clara RUZ 1, Francisco J. BARRERO 2, Francisco ESCAMILLA-SEVILLA 2, Javier PELEGRINA 2, Francisco VIVES 1, Raquel DURAN 1

1 Department of Physiology and Institute of Neurosciences Federico Olóriz, Biomedical Research Centre (BRC), University of Granada, Granada, Spain; 2 Movement Disorders Unit, Service of Neurology, Hospital of Health Tecnolgy Park (PTS), Granada, Spain



Parkinson’s disease (PD) is the second most common neurodegenerative disease, whose prevalence is projected to be between 8.7 and 9.3 million by 2030. Until about 20 years ago, PD was considered to be the textbook example of a “non-genetic” disorder. Nowadays, PD is generally considered a multifactorial disorder that arises from the combination and complex interaction of genes and environmental factors. To date, a total of 7 genes including SNCA, LRRK2, PARK2, DJ-1, PINK 1, VPS35 and ATP13A2 have been seen to cause unequivocally Mendelian PD. Also, variants with incomplete penetrance in the genes LRRK2 and GBA are considered to be strong risk factors for PD worldwide. Although genetic studies have provided valuable insights into the pathogenic mechanisms underlying PD, the role of structural variation in PD has been understudied in comparison with other genomic variations. Structural genomic variations might substantially account for such genetic substrates yet to be discovered. The present review aims to provide an overview of the structural genomic variants implicated in the pathogenesis of PD.


KEY WORDS: Genomic structural variation - Parkinson disease - Etiology

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