Teaching NeuroImages: Late-onset Alexander disease

초록

A 38-year-old woman presented with an 8-year history of progressive dysarthria, gait disturbance, and hyperreflexia. MRI revealed leukodystrophy involving brainstem with pial signal changes and spinal cord atrophy (figure 1). Brain biopsy showed Rosenthal fibers (figure 2). She had a de novo mutation of the glial fibrillary acidic protein (GFAP) gene (c.799G>C causing p.Ala267Pro).