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 Foroud, Matthew J. Farrer, Alexis Brice, Lefkos Middleton, Faycal Hentati

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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 languageEnglish
Pages (from-to)1250-1254
Number of pages5
JournalArchives of Neurology
Volume63
Issue number9
DOIs
StatePublished - 2006

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Leucine
Parkinson Disease
Phosphotransferases
Mutation
Gene Dosage
Homozygote
Heterozygote
Repeats
Parkinson's Disease
Phenotype
Genes
Gene
Familial

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Ishihara, L., Warren, L., Gibson, R., Amouri, R., Lesage, S., Dürr, A., ... 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

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. / Ishihara, Lianna; Warren, Liling; Gibson, Rachel; Amouri, Rim; Lesage, Suzanne; Dürr, Alexandra; Tazir, Meriem; Wszolek, Zbigniew K.; Uitti, Ryan J.; Nichols, William C.; Griffith, Alida; Hattori, Nobutaka; Leppert, David; Watts, Ray; Zabetian, Cyrus P.; Foroud, Tatiana; Farrer, Matthew J.; Brice, Alexis; Middleton, Lefkos; Hentati, Faycal.

In: Archives of Neurology, Vol. 63, No. 9, 2006, p. 1250-1254.

Research output: Contribution to journalArticle

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, T, 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
Ishihara, Lianna ; Warren, Liling ; Gibson, Rachel ; Amouri, Rim ; Lesage, Suzanne ; Dürr, Alexandra ; Tazir, Meriem ; Wszolek, Zbigniew K. ; Uitti, Ryan J. ; Nichols, William C. ; Griffith, Alida ; Hattori, Nobutaka ; Leppert, David ; Watts, Ray ; Zabetian, Cyrus P. ; Foroud, Tatiana ; Farrer, Matthew J. ; Brice, Alexis ; Middleton, Lefkos ; Hentati, Faycal. / Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. In: Archives of Neurology. 2006 ; Vol. 63, No. 9. pp. 1250-1254.
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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

AU - Farrer, Matthew J.

AU - Brice, Alexis

AU - Middleton, Lefkos

AU - Hentati, Faycal

PY - 2006

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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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