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Leucine-rich repeat...
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Carmine Belin, AndreaKarolinska Institutet
(author)
Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian.
- Article/chapterEnglish2006
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LIBRIS-ID:oai:gup.ub.gu.se/56429
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https://gup.ub.gu.se/publication/56429URI
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https://doi.org/10.1002/mds.21016DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1930750URI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Specific variants of Leucine-rich repeat kinase 2 (LRRK2) have been shown to associate with Parkinson's disease (PD). Several mutations have been found in PD populations from different parts of the world. We investigated the occurrence of three mutations (R1441G/C/H, G2019S, and I2020T) in our Swedish case-control material and identified four carriers of the G2019S mutation in 284 PD cases and 1 95-year-old carrier in 305 controls. The other two variants were absent in our material. We conclude that the LRRK2 G2019S mutation constitutes a significant factor for PD in the Swedish population and that it is not completely penetrant.
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Westerlund, MarieKarolinska Institutet
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Sydow, OlofKarolinska Institutet
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Lundströmer, KarinKarolinska Institutet
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Håkansson, Anna,1978Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology(Swepub:gu)xhakan
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Nissbrandt, Hans,1952Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi,Institute of Neuroscience and Physiology, Department of Pharmacology(Swepub:gu)xnisha
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Olson, LarsKarolinska Institutet
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Galter, DagmarKarolinska Institutet
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Karolinska InstitutetInstitutionen för neurovetenskap och fysiologi, sektionen för farmakologi
(creator_code:org_t)
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