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- Title
Variant in the sequence of the LINGO1 gene confers risk of essential tremor.
- Authors
Stefansson, Hreinn; Steinberg, Stacy; Petursson, Hjorvar; Gustafsson, Omar; Gudjonsdottir, Iris H.; Jonsdottir, Gudrun A.; Palsson, Stefan T.; Jonsson, Thorlakur; Saemundsdottir, Jona; Bjornsdottir1, Gyda; Böttcher, Yvonne; Thorlacius, Theodora; Haubenberger, Dietrich; Zimprich, Alexander; Auff, Eduard; Hotzy, Christoph; Testa, Claudia M.; Miyatake, Lisa A.; Rosen, Ami R.; Kristleifsson, Kristleifur
- Abstract
We identified a marker in LINGO1 showing genome-wide significant association (P = 1.2 × 10−9, odds ratio = 1.55) with essential tremor. LINGO1 has potent, negative regulatory influences on neuronal survival and is also important in regulating both central-nervous-system axon regeneration and oligodendrocyte maturation. An increase in the number of fusiform swellings of Purkinje cell axons in LINGO1 knockout models highlights the potential role of LINGO1 in essential tremor pathophysiology.
- Subjects
TREMOR; AXONS; PURKINJE cells; PATHOLOGICAL physiology; GENETIC research
- Publication
Nature Genetics, 2009, Vol 41, Issue 3, p277
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.299