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A 25-year-old Brazilian man presented with an 8-year history of progressive myoclonic epilepsy. Familial history disclosed a Japanese paternal grandmother with late-onset parkinsonism-dementia and a paternal uncle with atypical parkinsonism. Examination showed myoclonic jerks, ataxia, and brisk tendon reflexes. Brain MRI showed diffuse leukodystrophy (figure). Genetic testing (supplemental material on the Neurology® Web site at Neurology.org) exhibited 70/35 CAG expansions in the ATN1 gene, diagnostic of dentatorubral-pallidoluysian atrophy (DRPLA).

Teaching Neuro Images : Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA