| Title: |
Frontotemporal dementia and its subtypes: a genome-wide association study. |
| Authors: |
Ferrari R; Hernandez DG; Nalls MA; Rohrer JD; Ramasamy A; Kwok JB; Dobson Stone C; Brooks WS; Schofield PR; Halliday GM; Hodges JR; Piguet O; Bartley L; Thompson E; Haan E; Hernández I; Ruiz A; Boada M; Borroni B; Padovani A; Cruchaga C; Cairns NJ; Benussi L; Binetti G; Ghidoni R; Forloni G; Galimberti D; Fenoglio C; Serpente M; Scarpini E; Clarimón J; Lleó A; Blesa R; Waldö ML; Nilsson K; Nilsson C; Mackenzie IR; Hsiung GY; Mann DM; Grafman J; Morris CM; Attems J; Griffiths TD; McKeith IG; Thomas AJ; Pietrini P; Huey ED; Wassermann EM; Baborie A; Jaros E; Tierney MC; Pastor P; Razquin C; Ortega Cubero S; Alonso E; Perneczky R; Diehl Schmid J; Alexopoulos P; Kurz A; Rogaeva E; St George Hyslop P; Rossi G; Tagliavini F; Giaccone G; Rowe JB; Schlachetzki JC; Uphill J; Collinge J; Mead S; Danek A; Van Deerlin VM; Grossman M; Trojanowski JQ; van der Zee J; Deschamps W; Van Langenhove T; Cruts M; Van Broeckhoven C; Cappa SF; Le Ber I; Hannequin D; Golfier V; Vercelletto M; Brice A; Nacmias B; Sorbi S; Bagnoli S; Piaceri I; Nielsen JE; Hjermind LE; Riemenschneider M; Mayhaus M; Ibach B; Gasparoni G; Pichler S; Gu W; Rossor MN; Fox NC; Warren JD; Spillantini MG; Morris HR; Rizzu P; Heutink P; Snowden JS; Rollinson S; Richardson A; Gerhard A; Bruni AC; Maletta R; Frangipane F; Cupidi C; Bernardi L; Anfossi M; Gallo M; Conidi ME; Smirne N; Rademakers R; Baker M; Dickson DW; Graff Radford NR; Petersen RC; Knopman D; Josephs KA; Boeve BF; Parisi JE; Seeley WW; Miller BL; Karydas AM; Rosen H; van Swieten JC; Dopper EG; Seelaar H; Pijnenburg YA; Scheltens P; Logroscino G; Capozzo R; Novelli V; Puca AA; Franceschi M; Postiglione A; Milan G; Sorrentino P; Kristiansen M; Chiang HH; Graff C; Pasquier F; Rollin A; Deramecourt V; Lebert F; Kapogiannis D; Ferrucci L; Pickering Brown S; Singleton AB; Hardy J; Momeni P.; RAINERO, Innocenzo; RUBINO, Elisa; PINESSI, Lorenzo |
| Contributors: |
Ferrari R; Hernandez DG; Nalls MA; Rohrer JD; Ramasamy A; Kwok JB; Dobson-Stone C; Brooks WS; Schofield PR; Halliday GM; Hodges JR; Piguet O; Bartley L; Thompson E; Haan E; Hernández I; Ruiz A; Boada M; Borroni B; Padovani A; Cruchaga C; Cairns NJ; Benussi L; Binetti G; Ghidoni R; Forloni G; Galimberti D; Fenoglio C; Serpente M; Scarpini E; Clarimón J; Lleó A; Blesa R; Waldö ML; Nilsson K; Nilsson C; Mackenzie IR; Hsiung GY; Mann DM; Grafman J; Morris CM; Attems J; Griffiths TD; McKeith IG; Thomas AJ; Pietrini P; Huey ED; Wassermann EM; Baborie A; Jaros E; Tierney MC; Pastor P; Razquin C; Ortega-Cubero S; Alonso E; Perneczky R; Diehl-Schmid J; Alexopoulos P; Kurz A; Rainero I; Rubino E; Pinessi L; Rogaeva E; St George-Hyslop P; Rossi G; Tagliavini F; Giaccone G; Rowe JB; Schlachetzki JC; Uphill J; Collinge J; Mead S; Danek A; Van Deerlin VM; Grossman M; Trojanowski JQ; van der Zee J; Deschamps W; Van Langenhove T; Cruts M; Van Broeckhoven C; Cappa SF; Le Ber I; Hannequin D; Golfier V; Vercelletto M; Brice A; Nacmias B; Sorbi S; Bagnoli S; Piaceri I; Nielsen JE; Hjermind LE; Riemenschneider M; Mayhaus M; Ibach B; Gasparoni G; Pichler S; Gu W; Rossor MN |
| Publication Year: |
2014 |
| Collection: |
Università degli studi di Torino: AperTo (Archivio Istituzionale ad Accesso Aperto) |
| Description: |
BACKGROUND: Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological signatures, and genetic variability. Mutations in three genes-MAPT, GRN, and C9orf72--have been associated with FTD. We sought to identify novel genetic risk loci associated with the disorder. METHODS: We did a two-stage genome-wide association study on clinical FTD, analysing samples from 3526 patients with FTD and 9402 healthy controls. To reduce genetic heterogeneity, all participants were of European ancestry. In the discovery phase (samples from 2154 patients with FTD and 4308 controls), we did separate association analyses for each FTD subtype (behavioural variant FTD, semantic dementia, progressive non-fluent aphasia, and FTD overlapping with motor neuron disease [FTD-MND]), followed by a meta-analysis of the entire dataset. We carried forward replication of the novel suggestive loci in an independent sample series (samples from 1372 patients and 5094 controls) and then did joint phase and brain expression and methylation quantitative trait loci analyses for the associated (p |
| Document Type: |
article in journal/newspaper |
| File Description: |
STAMPA |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/24943344; info:eu-repo/semantics/altIdentifier/wos/WOS:000338483600015; volume:13; issue:7; firstpage:686; lastpage:699; numberofpages:14; journal:LANCET NEUROLOGY; http://hdl.handle.net/2318/148710; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84902509590; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126/ |
| DOI: |
10.1016/S1474-4422(14)70065-1 |
| Availability: |
http://hdl.handle.net/2318/148710; https://doi.org/10.1016/S1474-4422(14)70065-1; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126/ |
| Rights: |
info:eu-repo/semantics/closedAccess |
| Accession Number: |
edsbas.8D2CAD25 |
| Database: |
BASE |