Neurocognitive deficits and diffusion MR imaging abnormalities in a case of adult-onset autosomal dominant leukodystrophy
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.
KeywordsAdult-onset autosomal dominant leukodystrophy Diffusion tensor MR imaging Cognition White matter disease Young-onset dementia
Unable to display preview. Download preview PDF.
- Meyers J., Meyers K., The Rey Complex Figure and the Recognition Trial under four different administration procedures, Clin. Neuropsychol., 1995, 9, 65–67Google Scholar
- Giorgio E., Rolyan H., Kropp L., Chakka A.B., Yatsenko S., Gregorio E.D., et al., Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression, Hum. Mutat., 2013, 34, 1160–1171PubMedCentralPubMedCrossRefGoogle Scholar