Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain

María C. González-Fernández; Elena Lezcano; Owen A. Ross; Juan C. Gómez-Esteban; Fernando Gómez-Busto; Fernando Velasco; Maite Alvarez-Alvarez; María B. Rodríguez-Martínez; Roberto Ciordia; Juan J. Zarranz; Matthew J. Farrer; Ignacio F. Mata; Marian M. de Pancorbo

doi:10.1016/j.parkreldis.2007.04.003

Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain

María C. González-Fernández, Elena Lezcano, Owen A. Ross, Juan C. Gómez-Esteban, Fernando Gómez-Busto, Fernando Velasco, Maite Alvarez-Alvarez, María B. Rodríguez-Martínez, Roberto Ciordia, Juan J. Zarranz, Matthew J. Farrer, Ignacio F. Mata, Marian M. de Pancorbo

Neuroscience

Research output: Contribution to journal › Article › peer-review

38 Scopus citations

Abstract

Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.

Original language	English (US)
Pages (from-to)	509-515
Number of pages	7
Journal	Parkinsonism and Related Disorders
Volume	13
Issue number	8
DOIs	https://doi.org/10.1016/j.parkreldis.2007.04.003
State	Published - Dec 2007

Keywords

Dardarina
LRRK2
Mutation
Parkinson's disease
Spain

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.parkreldis.2007.04.003

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González-Fernández, M. C., Lezcano, E., Ross, O. A., Gómez-Esteban, J. C., Gómez-Busto, F., Velasco, F., Alvarez-Alvarez, M., Rodríguez-Martínez, M. B., Ciordia, R., Zarranz, J. J., Farrer, M. J., Mata, I. F., & de Pancorbo, M. M. (2007). Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain. Parkinsonism and Related Disorders, 13(8), 509-515. https://doi.org/10.1016/j.parkreldis.2007.04.003

González-Fernández, MC, Lezcano, E, Ross, OA, Gómez-Esteban, JC, Gómez-Busto, F, Velasco, F, Alvarez-Alvarez, M, Rodríguez-Martínez, MB, Ciordia, R, Zarranz, JJ, Farrer, MJ, Mata, IF & de Pancorbo, MM 2007, 'Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain', Parkinsonism and Related Disorders, vol. 13, no. 8, pp. 509-515. https://doi.org/10.1016/j.parkreldis.2007.04.003

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title = "Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain",

abstract = "Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.",

keywords = "Dardarina, LRRK2, Mutation, Parkinson's disease, Spain",

author = "Gonz{\'a}lez-Fern{\'a}ndez, {Mar{\'i}a C.} and Elena Lezcano and Ross, {Owen A.} and G{\'o}mez-Esteban, {Juan C.} and Fernando G{\'o}mez-Busto and Fernando Velasco and Maite Alvarez-Alvarez and Rodr{\'i}guez-Mart{\'i}nez, {Mar{\'i}a B.} and Roberto Ciordia and Zarranz, {Juan J.} and Farrer, {Matthew J.} and Mata, {Ignacio F.} and {de Pancorbo}, {Marian M.}",

note = "Funding Information: The authors want to thank all patients and relatives for their collaboration, and the nursing assistance from Cruces Neurology Department for blood extractions and Minnie Schreiber for technical assistance. Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256). MCGF was recipient of a fellowship from Spanish Minister of Science and Technology Grant number EET 2002-05165.",

year = "2007",

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doi = "10.1016/j.parkreldis.2007.04.003",

language = "English (US)",

volume = "13",

pages = "509--515",

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T1 - Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain

AU - González-Fernández, María C.

AU - Lezcano, Elena

AU - Ross, Owen A.

AU - Gómez-Esteban, Juan C.

AU - Gómez-Busto, Fernando

AU - Velasco, Fernando

AU - Alvarez-Alvarez, Maite

AU - Rodríguez-Martínez, María B.

AU - Ciordia, Roberto

AU - Zarranz, Juan J.

AU - Farrer, Matthew J.

AU - Mata, Ignacio F.

AU - de Pancorbo, Marian M.

N1 - Funding Information: The authors want to thank all patients and relatives for their collaboration, and the nursing assistance from Cruces Neurology Department for blood extractions and Minnie Schreiber for technical assistance. Mayo Clinic Jacksonville is a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256). MCGF was recipient of a fellowship from Spanish Minister of Science and Technology Grant number EET 2002-05165.

PY - 2007/12

Y1 - 2007/12

N2 - Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.

AB - Herein we describe a comparative clinical and genetic study of Lrrk2-associated parkinsonism in Northern Spain. In our sample from the Basque region, Lrrk2 R1441G and G2019S account for 15 out of 50 kindreds (30%) with familial Parkinson's disease. We observe common founder haplotypes for both R1441G and G2019S carriers. Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas.

KW - Dardarina

KW - LRRK2

KW - Mutation

KW - Parkinson's disease

KW - Spain

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JO - Parkinsonism and Related Disorders

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Lrrk2-associated parkinsonism is a major cause of disease in Northern Spain

Abstract

Keywords

ASJC Scopus subject areas

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