Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian.

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.

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Neurologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Neurology hsv//eng
MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Fysiologi hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Physiology hsv//eng
Adult
Aged
Aged
80 and over
Case-Control Studies
Cohort Studies
Female
Genetics
Population
Heterozygote Detection
Humans
Male
Middle Aged
Mutation
genetics
Parkinson Disease
diagnosis
genetics
Penetrance
Protein-Serine-Threonine Kinases
genetics
Reference Values
Sweden
Variation (Genetics)
genetics

Westerlund, MarieKarolinska Institutet (author)
Sydow, OlofKarolinska Institutet (author)
Lundströmer, KarinKarolinska Institutet (author)
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 (author)
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 (author)
Olson, LarsKarolinska Institutet (author)
Galter, DagmarKarolinska Institutet (author)
Karolinska InstitutetInstitutionen för neurovetenskap och fysiologi, sektionen för farmakologi (creator_code:org_t)

In:Movement disorders : official journal of the Movement Disorder Society: Wiley21:10, s. 1731-40885-3185
In:Movement Disorders: Wiley21:10, s. 1731-41531-8257

By the author/editor: Carmine Belin, A ...; Westerlund, Mari ...; Sydow, Olof; Lundströmer, Kar ...; Håkansson, Anna, ...; Nissbrandt, Hans ...; show more...; Olson, Lars; Galter, Dagmar; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Neurology

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Physiology

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