Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD

David Gosal; Owen A. Ross; Joe Wiley; G. Brent Irvine; Janet A. Johnston; Mathias Toft; Ignacio F. Mata; Jennifer Kachergus; Mary Hulihan; Julie P. Taylor; Sarah J. Lincoln; Matthew J. Farrer; Timothy Lynch; J. Mark Gibson

doi:10.1016/j.parkreldis.2005.05.004

Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD

David Gosal, Owen A. Ross, Joe Wiley, G. Brent Irvine, Janet A. Johnston, Mathias Toft, Ignacio F. Mata, Jennifer Kachergus, Mary Hulihan, Julie P. Taylor, Sarah J. Lincoln, Matthew J. Farrer, Timothy Lynch, J. Mark Gibson

Neuroscience

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

27 Scopus citations

Abstract

The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative in familial forms of the disorder. A number of pathogenic mutations have been identified in the latest gene LRRK2, with a Gly2019Ser amino acid substitution identified in two siblings and one patient with idiopathic Parkinson's disease from Ireland. The clinical features resemble the idiopathic variant with a tremor predominant clinical picture shared by the siblings, slow progression of symptoms, and no observation of cognitive disturbance in all. The family and the sporadic individual were apparently not related and originated from different regions of Ireland, although haplotype analysis does suggest they share a common founder. The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease.

Original language	English (US)
Pages (from-to)	349-352
Number of pages	4
Journal	Parkinsonism and Related Disorders
Volume	11
Issue number	6
DOIs	https://doi.org/10.1016/j.parkreldis.2005.05.004
State	Published - Sep 2005

Keywords

G2019S and Parkinson's disease
LRRK2

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.parkreldis.2005.05.004

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Gosal, D., Ross, O. A., Wiley, J., Irvine, G. B., Johnston, J. A., Toft, M., Mata, I. F., Kachergus, J., Hulihan, M., Taylor, J. P., Lincoln, S. J., Farrer, M. J., Lynch, T., & Gibson, J. M. (2005). Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD. Parkinsonism and Related Disorders, 11(6), 349-352. https://doi.org/10.1016/j.parkreldis.2005.05.004

Gosal, D, Ross, OA, Wiley, J, Irvine, GB, Johnston, JA, Toft, M, Mata, IF, Kachergus, J, Hulihan, M, Taylor, JP, Lincoln, SJ, Farrer, MJ, Lynch, T & Gibson, JM 2005, 'Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD', Parkinsonism and Related Disorders, vol. 11, no. 6, pp. 349-352. https://doi.org/10.1016/j.parkreldis.2005.05.004

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title = "Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD",

abstract = "The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative in familial forms of the disorder. A number of pathogenic mutations have been identified in the latest gene LRRK2, with a Gly2019Ser amino acid substitution identified in two siblings and one patient with idiopathic Parkinson's disease from Ireland. The clinical features resemble the idiopathic variant with a tremor predominant clinical picture shared by the siblings, slow progression of symptoms, and no observation of cognitive disturbance in all. The family and the sporadic individual were apparently not related and originated from different regions of Ireland, although haplotype analysis does suggest they share a common founder. The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease.",

keywords = "G2019S and Parkinson's disease, LRRK2",

author = "David Gosal and Ross, {Owen A.} and Joe Wiley and Irvine, {G. Brent} and Johnston, {Janet A.} and Mathias Toft and Mata, {Ignacio F.} and Jennifer Kachergus and Mary Hulihan and Taylor, {Julie P.} and Lincoln, {Sarah J.} and Farrer, {Matthew J.} and Timothy Lynch and Gibson, {J. Mark}",

note = "Funding Information: We are grateful to the following organizations for their support of this work: Mayo Clinic Jacksonville is a M.K. Udall Parkinson's Disease Research Centre of Excellence (NINDS P01 NS40256). The R&D Office of the Health and Personal Social Services (Northern Ireland). The Republic of Ireland research consortium was supported by The Irish Institute of Neurology and Neurosurgery Galen fellowship (DG&TL), a Conway Neuroscience PRTLI award (TL), and a Mater Hospital Research Scholarship. We thank Minnie Schreiber for technical assistance. We would also like to thank our research nurses Paula Woods and Sandra Leitch of the Neurology Department in the City Hospital, PD patients and control participants of the study and the Parkinson disease associations of Ireland.",

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AU - Gosal, David

AU - Ross, Owen A.

AU - Wiley, Joe

AU - Irvine, G. Brent

AU - Johnston, Janet A.

AU - Toft, Mathias

AU - Mata, Ignacio F.

AU - Kachergus, Jennifer

AU - Hulihan, Mary

AU - Taylor, Julie P.

AU - Lincoln, Sarah J.

AU - Farrer, Matthew J.

AU - Lynch, Timothy

AU - Gibson, J. Mark

N1 - Funding Information: We are grateful to the following organizations for their support of this work: Mayo Clinic Jacksonville is a M.K. Udall Parkinson's Disease Research Centre of Excellence (NINDS P01 NS40256). The R&D Office of the Health and Personal Social Services (Northern Ireland). The Republic of Ireland research consortium was supported by The Irish Institute of Neurology and Neurosurgery Galen fellowship (DG&TL), a Conway Neuroscience PRTLI award (TL), and a Mater Hospital Research Scholarship. We thank Minnie Schreiber for technical assistance. We would also like to thank our research nurses Paula Woods and Sandra Leitch of the Neurology Department in the City Hospital, PD patients and control participants of the study and the Parkinson disease associations of Ireland.

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AB - The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative in familial forms of the disorder. A number of pathogenic mutations have been identified in the latest gene LRRK2, with a Gly2019Ser amino acid substitution identified in two siblings and one patient with idiopathic Parkinson's disease from Ireland. The clinical features resemble the idiopathic variant with a tremor predominant clinical picture shared by the siblings, slow progression of symptoms, and no observation of cognitive disturbance in all. The family and the sporadic individual were apparently not related and originated from different regions of Ireland, although haplotype analysis does suggest they share a common founder. The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease.

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Clinical traits of LRRK2-associated Parkinson's disease in Ireland: A link between familial and idiopathic PD

Abstract

Keywords

ASJC Scopus subject areas

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