Type 2 Alexander Disease with a Novel Glial Fibrillary Acidic Protein Gene Mutation and Its Unique Clinical Features

We report mother-daughter cases of type 2 Alexander disease with a novel glial fibrillary acidic protein gene mutation. The mother (proband) began to show slowly progressive gait disturbance. However, after an incidental medical checkup, it took just 9 months for the diagnosis. Different from the previous reports, she showed a unique phenotype in points of scoliosis without palatal myoclonus, decreased regional cerebral blood flow in the frontal lobe and mild cognitive impairment. Her second daughter showed mild intellectual disability. Genetic analysis of the mother and the second daughter showed the same novel glial fibrillary acidic protein gene mutation (c.371_372insAGA).