LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease

Mutations in the leucine-rich repat kinase 2 ( LRRK2) gene have been shown to cause both autosomal dominant and sporadic Parkinson's disease (PD). The common G2019S mutation shows wide geographical distribution while R1441G has been only reported in Northern Spain. The overall frequency of thes...

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Bibliographic Details
Published in:Neuroscience letters 2006-03, Vol.395 (3), p.224-226
Main Authors: Infante, Jon, Rodríguez, Eloy, Combarros, Onofre, Mateo, Ignacio, Fontalba, Ana, Pascual, Julio, Oterino, Agustín, Polo, José Miguel, Leno, Carlos, Berciano, José
Format: Article
Language:English
Subjects:
Age of Onset
Aged
Antiparkinson Agents - adverse effects
Antiparkinson Agents - therapeutic use
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Female
Fundamental and applied biological sciences. Psychology
Gene Frequency
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Levodopa - adverse effects
Levodopa - therapeutic use
LRRK2
Male
Medical sciences
Middle Aged
Mutation
Mutation - physiology
Neurology
Parkinson Disease - epidemiology
Parkinson Disease - genetics
Parkinson's disease
Protein-Serine-Threonine Kinases - genetics
Spain - epidemiology
Vertebrates: nervous system and sense organs
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Summary:Mutations in the leucine-rich repat kinase 2 ( LRRK2) gene have been shown to cause both autosomal dominant and sporadic Parkinson's disease (PD). The common G2019S mutation shows wide geographical distribution while R1441G has been only reported in Northern Spain. The overall frequency of these mutations remains to be established. To determine the prevalence of G2019S and R1441G mutations in our population of Cantabria (Northern Spain), we recruited 105 consecutive PD patients and 310 controls and conducted genetic analysis of these mutations. G2019S was detected in eight late-onset patients (7.6%). Five of them had no relevant family history. R1441G was not detected in any of our study subjects. The prevalence of G2019S mutation in unselected late-onset PD patients might be higher than previously reported: 3/16 (18.7%) of familial PD and 5/82 (6.1%) of sporadic PD.
ISSN:0304-3940
1872-7972
DOI:10.1016/j.neulet.2005.10.083