Journal
TRANSLATIONAL NEUROSCIENCE
Volume 4, Issue 4, Pages 513-515Publisher
VERSITA
DOI: 10.2478/s13380-013-0142-1
Keywords
Adult-onset autosomal dominant leukodystrophy; Diffusion tensor MR imaging; Cognition; White matter disease; Young-onset dementia
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Funding
- La fondation sur les leucodystrophies
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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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