A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats. Issue 2 (4th January 2013)

• Record Type: Journal Article
• Authors: van der Zee, Julie; Gijselinck, Ilse; Dillen, Lubina; Van Langenhove, Tim; Theuns, Jessie; Engelborghs, Sebastiaan; Philtjens, Stéphanie; Vandenbulcke, Mathieu; Sleegers, Kristel; Sieben, Anne; Bäumer, Veerle; Maes, Githa; Corsmit, Ellen; Borroni, Barbara; Padovani, Alessandro; Archetti, Silvana; Perneczky, Robert; Diehl‐Schmid, Janine; de Mendonça, Alexandre; Miltenberger‐Miltenyi, Gabriel; Pereira, Sónia; Pimentel, José; Nacmias, Benedetta; Bagnoli, Silvia; Sorbi, Sandro; Graff, Caroline; Chiang, Huei‐Hsin; Westerlund, Marie; Sanchez‐Valle, Raquel; Llado, Albert; Gelpi, Ellen; Santana, Isabel; Almeida, Maria Rosário; Santiago, Beatriz; Frisoni, Giovanni; Zanetti, Orazio; Bonvicini, Cristian; Synofzik, Matthis; Maetzler, Walter; vom Hagen, Jennifer Müller; Schöls, Ludger; Heneka, Michael T.; Jessen, Frank; Matej, Radoslav; Parobkova, Eva; Kovacs, Gabor G.; Ströbel, Thomas; Sarafov, Stayko; Tournev, Ivailo; Jordanova, Albena; Danek, Adrian; Arzberger, Thomas; Fabrizi, Gian Maria; Testi, Silvia; Salmon, Eric; Santens, Patrick; Martin, Jean‐Jacques; Cras, Patrick; Vandenberghe, Rik; De Deyn, Peter Paul; Cruts, Marc; Van Broeckhoven, Christine; van der Zee, Julie; Gijselinck, Ilse; Dillen, Lubina; Van Langenhove, Tim; Theuns, Jessie; Philtjens, Stéphanie; Sleegers, Kristel; Bäumer, Veerle; Maes, Githa; Corsmit, Ellen; Cruts, Marc; Van Broeckhoven, Christine; van der Zee, Julie; Gijselinck, Ilse; Dillen, Lubina; Van Langenhove, Tim; Philtjens, Stéphanie; Theuns, Jessie; Sleegers, Kristel; Bäumer, Veerle; Maes, Githa; Cruts, Marc; Van Broeckhoven, Christine; Engelborghs, Sebastiaan; De Deyn, Peter P.; Cras, Patrick; Engelborghs, Sebastiaan; De Deyn, Peter P.; Vandenbulcke, Mathieu; Vandenbulcke, Mathieu; Borroni, Barbara; Padovani, Alessandro; Archetti, Silvana; Perneczky, Robert; Diehl‐Schmid, Janine; Synofzik, Matthis; Maetzler, Walter; Müller vom Hagen, Jennifer; Schöls, Ludger; Synofzik, Matthis; Maetzler, Walter; Müller vom Hagen, Jennifer; Schöls, Ludger; Heneka, Michael T.; Jessen, Frank; Ramirez, Alfredo; Kurzwelly, Delia; Sachtleben, Carmen; Mairer, Wolfgang; de Mendonça, Alexandre; Miltenberger‐Miltenyi, Gabriel; Pereira, Sónia; Firmo, Clara; Pimentel, José; Sanchez‐Valle, Raquel; Llado, Albert; Antonell, Anna; Molinuevo, Jose; Gelpi, Ellen; Graff, Caroline; Chiang, Huei‐Hsin; Westerlund, Marie; Graff, Caroline; Kinhult Ståhlbom, Anne; Thonberg, Håkan; Nennesmo, Inger; Börjesson‐Hanson, Anne; Nacmias, Benedetta; Bagnoli, Silvia; Sorbi, Sandro; Bessi, Valentina; Piaceri, Irene; Santana, Isabel; Santiago, Beatriz; Santana, Isabel; Helena Ribeiro, Maria; Rosário Almeida, Maria; Oliveira, Catarina; Massano, João; Garret, Carolina; Pires, Paula; Frisoni, Giovanni; Zanetti, Orazio; Bonvicini, Cristian; Sarafov, Stayko; Tournev, Ivailo; Jordanova, Albena; Tournev, Ivailo; Kovacs, Gabor G.; Ströbel, Thomas; Heneka, Michael T.; Jessen, Frank; Ramirez, Alfredo; Kurzwelly, Delia; Sachtleben, Carmen; Mairer;, Wolfgang; Jessen, Frank; Matej, Radoslav; Parobkova, Eva; Danel, Adrian; Arzberger, Thomas; Maria Fabrizi, Gian; Testi, Silvia; Ferrari, Sergio; Cavallaro, Tiziana; Salmon, Eric; Santens, Patrick; Cras, Patrick;
• Is Part Of: Human mutation. Volume 34:Issue 2(2013:Feb.)
• Page Start: 363
• Page End: 373
• Publication Date: 2013-01-04
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22244
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22244-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We assessed the geographical distribution of <italic>C9orf72</italic> G₄C₂ expansions in a pan‐European FTLD cohort. The overall FTLD frequency was 9.98% with frequencies of 18.52% in familial 6.26% in sporadic patients. We demonstrated that <italic>C9orf72</italic> transcriptional activity significantly decreased with increasing number of repeats of intermediate length (7 to 24 units), suggesting that they might act as predisposing alleles. Notably, we observed in expansion carriers increased frequencies of short indels in a GC‐rich, low complexity sequence adjacent to the G₄C₂ repeat. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1tt8nqzf" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>