Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

Owen A. Ross; Cleanthe Spanaki; Alida Griffith; Chin Hsien Lin; Jennifer Kachergus; Kristoffer Haugarvoll; Helen Latsoudis; Andreas Plaitakis; Joaquim J. Ferreira; Cristina Sampaio; Vincenzo Bonifati; Ruey Meei Wu; Cyrus P. Zabetian; Matthew J. Farrer

doi:10.1016/j.parkreldis.2008.09.001

Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

Owen A. Ross, Cleanthe Spanaki, Alida Griffith, Chin Hsien Lin, Jennifer Kachergus, Kristoffer Haugarvoll, Helen Latsoudis, Andreas Plaitakis, Joaquim J. Ferreira, Cristina Sampaio, Vincenzo Bonifati, Ruey Meei Wu, Cyrus P. Zabetian, Matthew J. Farrer

Neuroscience

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

30 Scopus citations

Abstract

The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution.

Original language	English (US)
Pages (from-to)	466-467
Number of pages	2
Journal	Parkinsonism and Related Disorders
Volume	15
Issue number	6
DOIs	https://doi.org/10.1016/j.parkreldis.2008.09.001
State	Published - Jul 2009

Keywords

Leucine-rich repeat kinase 2
Parkinson's disease
R1441H

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.parkreldis.2008.09.001

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Ross, O. A., Spanaki, C., Griffith, A., Lin, C. H., Kachergus, J., Haugarvoll, K., Latsoudis, H., Plaitakis, A., Ferreira, J. J., Sampaio, C., Bonifati, V., Wu, R. M., Zabetian, C. P., & Farrer, M. J. (2009). Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. Parkinsonism and Related Disorders, 15(6), 466-467. https://doi.org/10.1016/j.parkreldis.2008.09.001

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title = "Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism",

abstract = "The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution.",

keywords = "Leucine-rich repeat kinase 2, Parkinson's disease, R1441H",

author = "Ross, {Owen A.} and Cleanthe Spanaki and Alida Griffith and Lin, {Chin Hsien} and Jennifer Kachergus and Kristoffer Haugarvoll and Helen Latsoudis and Andreas Plaitakis and Ferreira, {Joaquim J.} and Cristina Sampaio and Vincenzo Bonifati and Wu, {Ruey Meei} and Zabetian, {Cyrus P.} and Farrer, {Matthew J.}",

note = "Funding Information: We would like to thank all those who have contributed to our research. This work is supported by a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256), the Department of Veterans Affairs (Merit Review Award), the Taiwan National Science Council (96-2628-B-002-103-MY2), by a grant from the “Internationaal Parkinson Fonds” (The Netherlands) to VB, and by a research grant from the “Parkinson Disease Foundation” to CS.",

year = "2009",

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doi = "10.1016/j.parkreldis.2008.09.001",

language = "English (US)",

volume = "15",

pages = "466--467",

journal = "Parkinsonism and Related Disorders",

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T1 - Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

AU - Ross, Owen A.

AU - Spanaki, Cleanthe

AU - Griffith, Alida

AU - Lin, Chin Hsien

AU - Kachergus, Jennifer

AU - Haugarvoll, Kristoffer

AU - Latsoudis, Helen

AU - Plaitakis, Andreas

AU - Ferreira, Joaquim J.

AU - Sampaio, Cristina

AU - Bonifati, Vincenzo

AU - Wu, Ruey Meei

AU - Zabetian, Cyrus P.

AU - Farrer, Matthew J.

N1 - Funding Information: We would like to thank all those who have contributed to our research. This work is supported by a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS40256), the Department of Veterans Affairs (Merit Review Award), the Taiwan National Science Council (96-2628-B-002-103-MY2), by a grant from the “Internationaal Parkinson Fonds” (The Netherlands) to VB, and by a research grant from the “Parkinson Disease Foundation” to CS.

PY - 2009/7

Y1 - 2009/7

N2 - The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution.

AB - The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). A third putatively pathogenic variant (R1441H) has been identified in four probands of diverse ethnicity with parkinsonism. Herein we show that the R1441H substitutions lie on different haplotypes within our patients, confirming this codon as a mutational hotspot. The absence of this variant in control subjects and the presence of two other pathogenic variants at this amino acid position collectively support the contention that R1441H is a pathogenic substitution.

KW - Leucine-rich repeat kinase 2

KW - Parkinson's disease

KW - R1441H

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JO - Parkinsonism and Related Disorders

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Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism

Abstract

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