Kim A Staats, Lawrence Van Helleputte, Ashley R Jones, André Bento-Abreu, Annelies Van Hoecke, Aleksey Shatunov, Claire L Simpson, Robin Lemmens, Tom Jaspers, Kiyoko Fukami, Yoshikazu Nakamura, Robert H Brown, Philip Van Damme, Adrian Liston, Wim Robberecht, Ammar Al-Chalabi, Ludo Van Den Bosch
Amyotrophic Lateral Sclerosis (ALS) is a devastating progressive neurodegenerative disease, resulting in selective motor neuron degeneration and paralysis. Patients die approximately 3-5 years after diagnosis. Disease pathophysiology is multifactorial, including excitotoxicity, but is not yet fully understood. Genetic analysis has proven fruitful in the past to further understand genes modulating the disease and increase knowledge of disease mechanisms. Here, we revisit a previously performed microsatellite analysis in ALS and focus on another hit, PLCD1, encoding phospholipase C delta 1 (PLCδ1), to investigate its role in ALS...
December 2013: Neurobiology of Disease