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BY-NC-ND 3.0 license Open Access Published by De Gruyter Open Access December 20, 2013

Neurocognitive deficits and diffusion MR imaging abnormalities in a case of adult-onset autosomal dominant leukodystrophy

  • Robert Laforce EMAIL logo , Martin Roy , Maxime Descoteaux , Christian Berthelot and Jean-Pierre Bouchard


Autosomal dominant adult-onset leukodystrophy (ADLD) is a progressive hereditary disease caused by duplication of Lamin B1 on chromosome 5q23.2. It is characterized by autonomic dysregulation, pyramidal signs, and cerebellar dysfunction. Since the first description in 1984, no authors have reported on its neurocognitive sequelae or attempted to quantify the severity of white matter changes. Herein we report a case of ADLD presenting with progressive cognitive changes leading to dementia and its associated white matter damage using diffusion MR imaging.

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Published Online: 2013-12-20
Published in Print: 2013-12-1

© 2013 Versita Warsaw

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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