OBJECTIVE: Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD. METHODS: The PGRN gene was sequenced in 272 cases of sporadic ALS, 40 cases of familial ALS and in 49 patients with ALS-FTD. RESULTS: Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb onset sporadic ALS (p.T182M), although the pathogenicity of these variants remains unclear. CONCLUSION: PGRN mutations are not a common cause of ALS phenotypes.
OBJECTIVE: Mutations in the progranulin (PGRN) gene were recently described as the cause of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD. METHODS: The PGRN gene was sequenced in 272 cases of sporadic ALS, 40 cases of familial ALS and in 49 patients with ALS-FTD. RESULTS: Missense changes were identified in an ALS-FTD patient (p.S120Y) and in a single case of limb onset sporadic ALS (p.T182M), although the pathogenicity of these variants remains unclear. CONCLUSION: PGRN mutations are not a common cause of ALS phenotypes.
Authors: Marc Cruts; Ilse Gijselinck; Julie van der Zee; Sebastiaan Engelborghs; Hans Wils; Daniel Pirici; Rosa Rademakers; Rik Vandenberghe; Bart Dermaut; Jean-Jacques Martin; Cornelia van Duijn; Karin Peeters; Raf Sciot; Patrick Santens; Tim De Pooter; Maria Mattheijssens; Marleen Van den Broeck; Ivy Cuijt; Krist'l Vennekens; Peter P De Deyn; Samir Kumar-Singh; Christine Van Broeckhoven Journal: Nature Date: 2006-07-16 Impact factor: 49.962
Authors: Sonia M Rosso; Laura Donker Kaat; Timo Baks; Marijke Joosse; Inge de Koning; Yolande Pijnenburg; Daniëlle de Jong; Dennis Dooijes; Wouter Kamphorst; Rivka Ravid; Martinus F Niermeijer; Frans Verheij; H P Kremer; Philip Scheltens; Cornelia M van Duijn; Peter Heutink; John C van Swieten Journal: Brain Date: 2003-07-22 Impact factor: 13.501
Authors: Jennifer Gass; Ashley Cannon; Ian R Mackenzie; Bradley Boeve; Matt Baker; Jennifer Adamson; Richard Crook; Stacey Melquist; Karen Kuntz; Ron Petersen; Keith Josephs; Stuart M Pickering-Brown; Neill Graff-Radford; Ryan Uitti; Dennis Dickson; Zbigniew Wszolek; John Gonzalez; Thomas G Beach; Eileen Bigio; Nancy Johnson; Sandra Weintraub; Marsel Mesulam; Charles L White; Bryan Woodruff; Richard Caselli; Ging-Yuek Hsiung; Howard Feldman; Dave Knopman; Mike Hutton; Rosa Rademakers Journal: Hum Mol Genet Date: 2006-09-01 Impact factor: 6.150
Authors: Matt Baker; Ian R Mackenzie; Stuart M Pickering-Brown; Jennifer Gass; Rosa Rademakers; Caroline Lindholm; Julie Snowden; Jennifer Adamson; A Dessa Sadovnick; Sara Rollinson; Ashley Cannon; Emily Dwosh; David Neary; Stacey Melquist; Anna Richardson; Dennis Dickson; Zdenek Berger; Jason Eriksen; Todd Robinson; Cynthia Zehr; Chad A Dickey; Richard Crook; Eileen McGowan; David Mann; Bradley Boeve; Howard Feldman; Mike Hutton Journal: Nature Date: 2006-07-16 Impact factor: 49.962
Authors: Bruno A Benitez; Celeste M Karch; Yefei Cai; Sheng Chih Jin; Breanna Cooper; David Carrell; Sarah Bertelsen; Lori Chibnik; Julie A Schneider; David A Bennett; Anne M Fagan; David Holtzman; John C Morris; Alison M Goate; Carlos Cruchaga Journal: PLoS Genet Date: 2013-08-22 Impact factor: 5.917
Authors: Cara L Ryan; David C Baranowski; Babykumari P Chitramuthu; Suneil Malik; Zhi Li; Mingju Cao; Sandra Minotti; Heather D Durham; Denis G Kay; Christopher A Shaw; Hugh P J Bennett; Andrew Bateman Journal: BMC Neurosci Date: 2009-10-27 Impact factor: 3.288