Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings

To describe the clinical, biochemical, and neuropathological findings of an autosomal dominant globular glial tauopathy caused by the P301T mutation at the MAPT gene. Five patients from two unrelated pedigrees underwent clinical evaluation. Genetic analysis, brain pathological examination, and biochemical analysis of tau were performed. The patients studied were 3 men and 2 women with a mean age at onset of 52.2 years and mean disease duration...