Article
Progranulin genetic variability contributes to amyotrophic lateral sclerosis.
Neurology - 22 Jul 2008
Sleegers K, Brouwers N, Maurer-Stroh S, van Es M A, Van Damme P, van Vught P W J, van der Zee J, Serneels S, De Pooter T, Van den Broeck M, Cruts M, Schymkowitz J, De Jonghe P, Rousseau F, van den Berg L H, Robberecht W, Van Broeckhoven C
Abstract excerpt
OBJECTIVES: Null mutations in progranulin (PGRN) cause ubiquitin-positive frontotemporal dementia (FTD) linked to chromosome 17q21 (FTDU-17). Here we examined PGRN genetic variability in amyotrophic lateral sclerosis (ALS), a neurodegenerative motor neuron disease that overlaps with FTD at a clinical, pathologic, and epidemiologic level. METHODS: We sequenced all exons, exon-intron boundaries, and 5' and 3'...
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