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. Case reportA 55-year-old man was evaluated for a 10-year history of weakness of the legs (left > right) and gait disturbances. In the last three years, he also complained of significant changes in his cognition. A detailed history revealed changes in attention, memory and organizational skills. showed that compared to our control paired for age and education, FA was 12.5% lower in the patient, while ADC diffusivities (radial and axial) were 5% higher. Preliminary results from HARDI tractography robust to fiber crossing [2] showed chaotic and incoherently organized tracts (e.g., corticospinal tract; see Figure 2G-H). DiscussionTo this date, ADLD had only been known for its progressive onset of autonomic, pyramidal and cerebellar symptoms [3,4]. We report of a 55 year-old ADLD patient with significant deficits in attention, memory, visuoconstruction and executive skills. Deficits particularly affect frontal-subcortical pathways and give rise to

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