LRRK2 mutations are a common cause of Parkinson's disease in Spain

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Ignacio F MataVictoria Alvarez

Abstract

Pathogenic mutations in the leucine-rich repeat kinase 2 gene (LRRK2; PARK8) have been implicated in autosomal dominant, late-onset parkinsonism. The LRRK2 6055G > A (G2019S) mutation is the most common reported to date, and has been observed in a number of different European populations. So far, only the LRRK2 4321C > G (R1441G) mutation has been identified in the Spanish population. Herein we have assessed the frequency of G2019S in a referral-based series of 225 patients with Parkinson's disease (PD) from the region of Asturias, Northern Spain. The mutant allele was identified in five (2.7%) of the sporadic late-onset patients and was not present in control subjects. All carriers displayed genetic profiles consistent with the same haplotype, as previously reported for Lrrk2 G2019S-positive subjects. None of these patients presented with a family history of parkinsonism at the time of diagnosis. Thus, approximately 5% of sporadic patients with PD from the North of Spain have either Lrrk2 G2019S or R1441G substitutions.

References

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Citations

Sep 17, 2009·Journal of Neural Transmission·Avner ThalerNir Giladi
Jul 11, 2006·Current Neurology and Neuroscience Reports·Kristoffer Haugarvoll, Zbigniew K Wszolek
Mar 29, 2007·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·S N IllarioshkinI A Ivanova-Smolenskaya
Sep 21, 2007·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·K KalinderiA Kotsis
Oct 13, 2010·Journal of Geriatric Psychiatry and Neurology·Lynn M BekrisCyrus P Zabetian
Aug 7, 2009·Journal of Neural Transmission·Lorena De MenaVictoria Alvarez
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May 3, 2012·Parkinson's Disease·Ryan M WelchkoGary L Dunbar
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Sep 29, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·María SierraJon Infante
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Nov 26, 2008·Journal of Neuroscience Research·Payal N GandhiAmy L Wilson-Delfosse
May 15, 2010·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Lorena de MenaVictoria Alvarez
Apr 17, 2018·Genetics and Molecular Biology·Lucas Henriques ViscardiMaria Cátira Bortolini
Mar 26, 2021·Frontiers in Neurology·Ana Vinagre-AragónJavier Ruiz-Martinez

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