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

@article{Erro2019GlobularGT,
  title={Globular glial tauopathy caused by MAPT P301T mutation: clinical and neuropathological findings},
  author={Mar{\'i}a Elena Erro and Mar{\'i}a Victoria Zelaya and Maite Mendioroz and Rosa Larumbe and Sara Ortega-Cubero and Jos{\'e} L Lanciego and Ana Llad{\'o} and Thomas Cabada and Teresa Tu{\~n}{\'o}n and Ferr{\'a}n Garc{\'i}a-Bragado and M. R. Luquin and Pau Pastor and Isidro Ferrer},
  journal={Journal of Neurology},
  year={2019},
  pages={1-10}
}
ObjectiveTo describe the clinical, biochemical, and neuropathological findings of an autosomal dominant globular glial tauopathy caused by the P301T mutation at the MAPT gene.MethodsFive patients from two unrelated pedigrees underwent clinical evaluation. Genetic analysis, brain pathological examination, and biochemical analysis of tau were performed.ResultsThe patients studied were 3 men and 2 women with a mean age at onset of 52.2 years and mean disease duration of 5.2 years. Three patients… CONTINUE READING

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