Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

Lianna Ishihara; Liling Warren; Rachel Gibson; Rim Amouri; Suzanne Lesage; Alexandra Dürr; Meriem Tazir; Zbigniew K. Wszolek; Ryan J. Uitti; William C. Nichols; Alida Griffith; Nobutaka Hattori; David Leppert; Ray Watts; Cyrus P. Zabetian; Tatiana M. Foroud; Matthew J. Farrer; Alexis Brice; Lefkos Middleton; Faycal Hentati

doi:10.1001/archneur.63.9.1250

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

Lianna Ishihara, Liling Warren, Rachel Gibson, Rim Amouri, Suzanne Lesage, Alexandra Dürr, Meriem Tazir, Zbigniew K. Wszolek, Ryan J. Uitti, William C. Nichols, Alida Griffith, Nobutaka Hattori, David Leppert, Ray Watts, Cyrus P. Zabetian, Tatiana M. Foroud, Matthew J. Farrer, Alexis Brice, Lefkos Middleton, Faycal Hentati

Neurology

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

75 Scopus citations

Abstract

Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK2 6055G>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There were no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.

Original language	English (US)
Pages (from-to)	1250-1254
Number of pages	5
Journal	Archives of neurology
Volume	63
Issue number	9
DOIs	https://doi.org/10.1001/archneur.63.9.1250
State	Published - 2006

ASJC Scopus subject areas

Arts and Humanities (miscellaneous)
Clinical Neurology

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Ishihara, L., Warren, L., Gibson, R., Amouri, R., Lesage, S., Dürr, A., Tazir, M., Wszolek, Z. K., Uitti, R. J., Nichols, W. C., Griffith, A., Hattori, N., Leppert, D., Watts, R., Zabetian, C. P., Foroud, T. M., Farrer, M. J., Brice, A., Middleton, L., & Hentati, F. (2006). Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Archives of neurology, 63(9), 1250-1254. https://doi.org/10.1001/archneur.63.9.1250

Ishihara, L, Warren, L, Gibson, R, Amouri, R, Lesage, S, Dürr, A, Tazir, M, Wszolek, ZK, Uitti, RJ, Nichols, WC, Griffith, A, Hattori, N, Leppert, D, Watts, R, Zabetian, CP, Foroud, TM, Farrer, MJ, Brice, A, Middleton, L & Hentati, F 2006, 'Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations', Archives of neurology, vol. 63, no. 9, pp. 1250-1254. https://doi.org/10.1001/archneur.63.9.1250

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title = "Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations",

abstract = "Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK2 6055G>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There were no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.",

author = "Lianna Ishihara and Liling Warren and Rachel Gibson and Rim Amouri and Suzanne Lesage and Alexandra D{\"u}rr and Meriem Tazir and Wszolek, {Zbigniew K.} and Uitti, {Ryan J.} and Nichols, {William C.} and Alida Griffith and Nobutaka Hattori and David Leppert and Ray Watts and Zabetian, {Cyrus P.} and Foroud, {Tatiana M.} and Farrer, {Matthew J.} and Alexis Brice and Lefkos Middleton and Faycal Hentati",

year = "2006",

doi = "10.1001/archneur.63.9.1250",

language = "English (US)",

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T1 - Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

AU - Ishihara, Lianna

AU - Warren, Liling

AU - Gibson, Rachel

AU - Amouri, Rim

AU - Lesage, Suzanne

AU - Dürr, Alexandra

AU - Tazir, Meriem

AU - Wszolek, Zbigniew K.

AU - Uitti, Ryan J.

AU - Nichols, William C.

AU - Griffith, Alida

AU - Hattori, Nobutaka

AU - Leppert, David

AU - Watts, Ray

AU - Zabetian, Cyrus P.

AU - Foroud, Tatiana M.

AU - Farrer, Matthew J.

AU - Brice, Alexis

AU - Middleton, Lefkos

AU - Hentati, Faycal

PY - 2006

Y1 - 2006

N2 - Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK2 6055G>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There were no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.

AB - Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK2 6055G>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There were no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.

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Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations

Abstract

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