Accepted for Publication: September 7, 2011.
Published Online: February 6, 2012. doi:10.1001/archneurol.2011.1942
Author Contributions:Study concept and design: Brais and Bernard. Acquisition of data: Vanderver, Roux, and Brais. Analysis and interpretation of data: La Piana, Vanderver, van der Knaap, and Tampieri. Drafting of the manuscript: La Piana. Critical revision of the manuscript for important intellectual content: Vanderver, van der Knaap, Roux, Tampieri, Brais, and Bernard. Administrative, technical, and material support: Vanderver. Study supervision: Brais and Bernard.
Financial Disclosure: None reported.
Funding/Support: Dr La Piana has received a fellowship grant from the Montreal Neurological Institute. Dr Vanderver has received support from the American Academy of Neurology Foundation. Dr van der Knaap is supported by TOP grant 9120.6002 from the Dutch Organisation for Scientific Research (ZonMw) and grant 2008029 WO from the Dr W. M. Phelps Foundation. Drs Brais and Bernard have received research funds from the Fondation des Leucodystrophies and the European Leukodystrophy Foundation. Dr Bernard has received fellowship grants from the Fonds de Recherche en Santé du Québec.
Additional Contributions: We thank the patient for her participation in this study and Luc Marchand, MD, FRCPC, for referring the patient. PreventionGenetics performed the genetic testing and provided the color chromatogram of the 2 mutations.