There is a growing literature of mutations within the GFAP gene that lead to the clinical phenotype of Adult Onset Alexander’s Disease

Adult Onset Alexander’s Disease (AOAD) is caused by mutation of the glial fibrillary acidic protein (GFAP) gene, leading to astrocyte dysfunction. The disease is often associated with the classic MRI findings of medullary and cervical cord atrophy with corresponding T2 hyperintense signal changes with or without enhancement. We describe a 67-year-old woman who presented with progressive neurologic impairment, starting with gait and urinary dysfunction. Her MRI prompted genetic testing for AOAD and discovery of a novel GFAP S393R mutation. To our knowledge, this is the first published case of this specific S393R GFAP mutation associated with AOAD.