"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation.

  title={"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation.},
  author={Fermin Moreno and Bego{\~n}a Indakoetxea and Myriam Barandiar{\'a}n and Ainhoa Alzualde and Alazne Gabilondo and Ainara Estanga and Joaquim Ruiz and Marta Ruibal and Alberto Bergareche and Jose F. Marti-Masso and Adolfo L{\'o}pez de Mun{\'a}in},
  volume={73 17},
BACKGROUND Mutations in the progranulin gene (PGRN) are a major cause of frontotemporal lobar degeneration with tau-negative and ubiquitin-positive neuronal inclusions. Most previous studies aimed at characterizing the clinical and neuropsychological phenotype of PGRN mutation carriers included patients with different PGRN mutations, assuming that the common proposed pathogenetic mechanism of haploinsufficiency will lead to a comparable phenotype. METHODS We studied 21 patients with a single… CONTINUE READING
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