Article
GRN variability contributes to sporadic frontotemporal lobar degeneration.
Journal of Alzheimer's disease : JAD - 1 Jan 2010
Galimberti Daniela, Fenoglio Chiara, Cortini Francesca, Serpente Maria, Venturelli Eliana, Villa Chiara, Clerici Francesca, Marcone Alessandra, Benussi Luisa, Ghidoni Roberta, Gallone Salvatore, Scalabrini Diego, Restelli Ilaria, Martinelli Boneschi Filippo, Cappa Stefano, Binetti Giuliano, Mariani Claudio, Rainero Innocenzo, Giordana Maria Teresa, Bresolin Nereo, Scarpini Elio
Abstract excerpt
Mutations in the progranulin gene (GRN) are responsible for familial FTLD with ubiquitin pathology (FTLD-U). However, there are controversial data regarding the contribution of GRN variability to sporadic FTLD. We carried out an association study in 265 patients, who did not carry a GRN causal mutation, and 375 age-matched controls. Four tagging Single Nucleotide Polymorphisms (SNPs) were chosen generate 80%...
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