Article
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation.
Neurology - 27 Oct 2009
Moreno F, Indakoetxea B, Barandiaran M, Alzualde A, Gabilondo A, Estanga A, Ruiz J, Ruibal M, Bergareche A, Martí-Massó J F, López de Munain A
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.