Abstract
A 50-year-old man with a 5-year history of progressive genitourinary dysautonomia noticed recent leg stiffness. Neurologic examination showed mild spastic paraparesis. MRI showed an unusual pattern of white matter changes in the brain and spinal cord atrophy (figure). Electroneurography, CSF, and blood/urine metabolic studies had normal results. Despite a negative family history, the patient's features were suggestive of autosomal dominant leukodystrophy (ADLD, MIM #169500).1 Molecular testing confirmed this diagnosis, documenting a duplication in LMNB1, coding for lamin B1.2
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