A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

@article{Gijselinck2012ACP,
  title={A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.},
  author={Ilse Gijselinck and Tim van Langenhove and Julie van der Zee and Kristel Sleegers and St{\'e}phanie Philtjens and Gernot Kleinberger and Jonathan Janssens and Karolien Bettens and Caroline Van Cauwenberghe and Sandra Pereson and Sebastiaan Engelborghs and Anne Sieben and Peter de Jonghe and Rik Vandenberghe and Patrick Santens and Jan L. De Bleecker and Githa Maes and Veerle B{\"a}umer and Lubina Dillen and Geert Joris and Ivy Cuijt and Ellen Corsmit and Ellen Elinck and Jasper Van Dongen and Steven Vermeulen and Marleen van den Broeck and Carolien Vaerenberg and Maria Mattheijssens and Karin Peeters and Wim Robberecht and Patrick Cras and J V Martin and Peter Paul De Deyn and Marc Cruts and Christine van Broeckhoven},
  journal={The Lancet. Neurology},
  year={2012},
  volume={11 1},
  pages={54-65}
}
BACKGROUND Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are extremes of a clinically, pathologically, and genetically overlapping disease spectrum. A locus on chromosome 9p21 has been associated with both disorders, and we aimed to identify the causal gene within this region. METHODS We studied 305 patients with FTLD, 137 with ALS, and 23 with concomitant FTLD and ALS (FTLD-ALS) and 856 controls from Flanders (Belgium); patients were identified from a… CONTINUE READING
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