LAUSR

A 35-year-old woman presented with gait disturbance, generalized stiffness, difficulty swallowing, and bladder incontinence for the past 3 years. Neurologic evaluation revealed brisk deep tendon reflexes in all 4 limbs and bilateral Hoffman signs. Her family history was significant for a brother diagnosed through genetic testing with Adult-onset Alexander disease (AOAD) at age 28. MRI head and cervical spine (figure A and B) showed classic signs of AOAD. Genetic testing confirmed glial fibrillary acidic protein gene mutation R239G consistent with AOAD. Although infantile Alexander Disease is more common, these unique MRI findings should raise suspicion of AOAD and prompt consideration for genetic testing.1,2