Article
Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis.
Journal of neural transmission (Vienna, Austria : 1996) - 1 Mar 2007
Whittle A J, Ross O A, Naini A, Gordon P, Mistumoto H, Dächsel J C, Stone J T, Wszolek Z K, Farrer M J, Przedborski S
Abstract excerpt
Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodegenerative disorder that is reminiscent of amyotrophic lateral sclerosis and Parkinsonism-Dementia Complex. We screened 54 patients with ALS for seven known Lrrk2 pathogenic substitutions in the Roc, COR and kinase domains. No mutations were observed suggesting that this locus does not have a major influence on the...
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