Translational Neuroscience

, Volume 4, Issue 4, pp 513–515 | Cite as

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

  • Robert LaforceJr.
  • Martin Roy
  • Maxime Descoteaux
  • Christian Berthelot
  • Jean-Pierre Bouchard
Case Report


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.


Adult-onset autosomal dominant leukodystrophy Diffusion tensor MR imaging Cognition White matter disease Young-onset dementia 


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Copyright information

© Versita Warsaw and Springer-Verlag Wien 2013

Authors and Affiliations

  • Robert LaforceJr.
    • 1
    • 2
  • Martin Roy
    • 1
  • Maxime Descoteaux
    • 3
  • Christian Berthelot
    • 4
  • Jean-Pierre Bouchard
    • 1
  1. 1.Clinique interdisciplinaire de mémoire, Département des sciences neurologiquesCHU de QuébecQuébecCanada
  2. 2.Faculté de médecineUniversité LavalQuébecCanada
  3. 3.Sherbrooke Connectivity Imaging Lab, Computer Science DepartmentUniversité de SherbrookeSherbrookeCanada
  4. 4.Département de radiologieCHU de QuébecQuébecCanada

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