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Comparative Study
. 2006 Sep;63(9):1250-4.
doi: 10.1001/archneur.63.9.1250.

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

Lianna Ishihara  1 , 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
Affiliations
Comparative Study

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

Lianna Ishihara et al. Arch Neurol. 2006 Sep.

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.

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