Authors
Suzanne Lesage, Valérie Drouet, Elisa Majounie, Vincent Deramecourt, Maxime Jacoupy, Aude Nicolas, Florence Cormier-Dequaire, Sidi Mohamed Hassoun, Claire Pujol, Sorana Ciura, Zoi Erpapazoglou, Tatiana Usenko, Claude-Alain Maurage, Mourad Sahbatou, Stefan Liebau, Jinhui Ding, Basar Bilgic, Murat Emre, Nihan Erginel-Unaltuna, Gamze Guven, François Tison, Christine Tranchant, Marie Vidailhet, Jean-Christophe Corvol, Paul Krack, Anne-Louise Leutenegger, Michael A Nalls, Dena G Hernandez, Peter Heutink, J Raphael Gibbs, John Hardy, Nicholas W Wood, Thomas Gasser, Alexandra Durr, Jean-François Deleuze, Meriem Tazir, Alain Destée, Ebba Lohmann, Edor Kabashi, Andrew Singleton, Olga Corti, Alexis Brice, Yves Agid, Mathieu Anheim, Anne-Marie Bonnet, Michel Borg, Emmanuel Broussolle, Philippe Damier, Alexandra Dürr, Franck Durif, Stephan Klebe, Maria Martinez, Pierre Pollak, Olivier Rascol, Marc Vérin, François Viallet, Jean Christophe Corvol, Sampath Arepalli, Roger A Barker, Yoav Ben-Shlomo, Daniela Berg, Francesco Bettella, Kailash Bhatia, Rob MA de Bie, Alessandro Biffi, Bastiaan R Bloem, Zoltan Bochdanovits, Michael Bonin, Jose M Bras, Kathrin Brockmann, Janet Brooks, David J Burn, Gavin Charlesworth, Honglei Chen, Patrick F Chinnery, Sean Chong, Carl E Clarke, Mark R Cookson, Carl Counsell, Jean-François Dartigues, Panos Deloukas, Günther Deuschl, David T Dexter, Karin D van Dijk, Allissa Dillman, Jing Dong, Frank Durif, Sarah Edkins, Valentina Escott-Price, Jonathan R Evans, Thomas Foltynie, Jianjun Gao, Michelle Gardner, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J van Hilten, Albert Hofman, Albert Hollenbeck, Peter Holmans, Janice Holton, Michèle Hu, Xuemei Huang, Heiko Huber, Gavin Hudson, Sarah E Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V Jónsson, Laura L Kilarski, Iris E Jansen, Jean-Charles Lambert, Cordelia Langford, Andrew Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Steven Lubbe, Codrin Lungu, María Martinez, Walter Mätzler, Alisdair McNeill, Catriona Moorby, Matthew Moore, Karen E Morrison, Ese Mudanohwo, Sean S O’Sullivan, Michael J Owen, Justin Pearson, Joel S Perlmutter, Hjörvar Pétursson, Vincent Plagnol, Bart Post, Simon Potter, Bernard Ravina, Tamas Revesz, Olaf Riess, Fernando Rivadeneira, Patrizia Rizzu, Mina Ryten, Mohamad Saad, Javier Simón-Sánchez, Stephen Sawcer, Anthony Schapira, Hans Scheffer, Claudia Schulte, Manu Sharma, Karen Shaw
Publication date
2016/3/3
Journal
The American Journal of Human Genetics
Volume
98
Issue
3
Pages
500-513
Publisher
Elsevier
Description
Autosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of …
Scholar articles
S Lesage, V Drouet, E Majounie, V Deramecourt… - The American Journal of Human Genetics, 2016