Abstract
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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Meyers J., Meyers K., The Rey Complex Figure and the Recognition Trial under four different administration procedures, Clin. Neuropsychol., 1995, 9, 65–67
Descoteaux, M., Deriche, R., Knosche, T. R., & Anwander, A. (2009). Deterministic and probabilistic tractography based on complex fibre orientation distributions. IEEE Trans Med Imaging, 28(2), 269–286.
Padiath Q.S., Saigoh K., Schiffmann R., Asahara H., Yamada T., Koeppen A., et al., Lamin B1 duplications cause autosomal dominant leukodystrophy, Nat. Genet., 2006, 38, 1114–1123
Meijer I.A., Simoes-Lopes A.A., Laurent S., Katz T., St-Onge J., Verlaan D.J., et al., A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy, Arch. Neurol., 2008, 65, 1496–1501
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, 1160–1171
Flanagan E.P., Gavrilova R.H., Boeve B.F., Kumar N., Jelsing E.J., Silber M.H., Adult-onset autosomal dominant leukodystrophy presenting with REM sleep behavior disorder, Neurology, 2013, 80, 118–120
Potic A., Pavlovic A.M., Uziel G., Kozic D., Ostojic J., Rovelli A., et al., Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant, J. Neurol., 2013, 260, 2124–2129
Freeman S.H., Hyman B.T., Sims K.B., Hedley-Whyte E.T., Vossough A., Frosch M.P., et al., Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations, Brain Pathol., 2009, 19, 39–47
Mascalchi M., Gavazzi C., Morbin M., et al., CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia, Am. J. Neuroradiol., 2006, 27, 1037–1039
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Laforce, R., Roy, M., Descoteaux, M. et al. Neurocognitive deficits and diffusion MR imaging abnormalities in a case of adult-onset autosomal dominant leukodystrophy. Translat.Neurosci. 4, 513–515 (2013). https://doi.org/10.2478/s13380-013-0142-1
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DOI: https://doi.org/10.2478/s13380-013-0142-1