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Volume 138, Issue 2, 01 February 2015


Scientific Commentaries

Review Article


  • ★ Editor's Choice ★
    Fei Yang, Ylva Trolle Lagerros, Rino Bellocco, Hans-Olov Adami, Fang Fang, Nancy L. Pedersen, Karin Wirdefeldt Brain (2015) 138 (2): 269-275 DOI: http://dx.doi.org/10.1093/brain/awu323 First published online: 19 November 2014 (7 pages)

    Physical exercise has been suggested to be neuroprotective in the nigrostriatal system. Yang et al. prospectively investigate the association between physical activity and Parkinson’s disease risk in 43 368 Swedish subjects. They show that increased levels of physical activity are associated with a lower risk of Parkinson’s disease.

    See Tanner and Comella (doi:10.1093/brain/awu351) for a scientific commentary on this article.

  • Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez-Koref, Gail Eglon, Patrick Yu-Wai-Man, Venkateswaran Ramesh, Rita Horvath, Patrick F. Chinnery Brain (2015) 138 (2): 276-283 DOI: http://dx.doi.org/10.1093/brain/awu348 First published online: 13 December 2014 (8 pages)

    Inherited ataxias are difficult to diagnose genetically. Pyle et al. use whole-exome sequencing to provide a likely molecular diagnosis in 14 of 22 families with ataxia. The approach reveals de novo mutations, broadens the phenotype of other disease genes, and is equally effective in young and older-onset patients.

  • Xavier Ayrignac, Clarisse Carra-Dalliere, Nicolas Menjot de Champfleur, Christian Denier, Patrick Aubourg, Celine Bellesme, Giovanni Castelnovo, Jean Pelletier, Bertrand Audoin, Elsa Kaphan, Jerome de Seze, Nicolas Collongues, Frederic Blanc, Jean-Baptiste Chanson, Eloi Magnin, Eric Berger, Sandra Vukusic, Francoise Durand-Dubief, Jean-Philippe Camdessanche, Mickael Cohen, Christine Lebrun-Frenay, David Brassat, Michel Clanet, Patrick Vermersch, Helene Zephir, Olivier Outteryck, Sandrine Wiertlewski, David-Axel Laplaud, Jean-Christophe Ouallet, Bruno Brochet, Cyril Goizet, Marc Debouverie, Sophie Pittion, Gilles Edan, Véronique Deburghgraeve, Emmanuelle Le Page, Christophe Verny, Patrizia Amati-Bonneau, Dominique Bonneau, Didier Hannequin, Lucie Guyant-Maréchal, Nathalie Derache, Gilles Louis Defer, Thibault Moreau, Maurice Giroud, Anne Marie Guennoc, Pierre Clavelou, Frédérique Taithe, Stephane Mathis, Jean-Philippe Neau, Laurent Magy, Jean Louis Devoize, Marc Bataillard, Julien Masliah-Planchon, Imen Dorboz, Elisabeth Tournier-Lasserve, Thierry Levade, Odile Boespflug Tanguy, Pierre Labauge Brain (2015) 138 (2): 284-292 DOI: http://dx.doi.org/10.1093/brain/awu353 First published online: 20 December 2014 (9 pages)

    Adult-onset genetic leukoencephalopathies are rare and heterogeneous disorders. Ayrignac et al. identify 154 patients using an MRI pattern-based algorithm that focuses on the presence of vascular or cavitary lesions. They are able to verify the diagnosis genetically in 64% of cases, confirming the value of the MRI classification system.

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