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.
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 PDpatients 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.
Authors: M Yue; K M Hinkle; P Davies; E Trushina; F C Fiesel; T A Christenson; A S Schroeder; L Zhang; E Bowles; B Behrouz; S J Lincoln; J E Beevers; A J Milnerwood; A Kurti; P J McLean; J D Fryer; W Springer; D W Dickson; M J Farrer; H L Melrose Journal: Neurobiol Dis Date: 2015-03-31 Impact factor: 5.996
Authors: M J Barrett; J Hagenah; V Dhawan; S Peng; K Stanley; D Raymond; A Deik; S J Gross; N Schreiber-Agus; A Mirelman; K Marder; L J Ozelius; D Eidelberg; S B Bressman; R Saunders-Pullman Journal: Parkinsonism Relat Disord Date: 2012-10-10 Impact factor: 4.891
Authors: Carolina Perez-Pastene; Stephanie A Cobb; Fernando Díaz-Grez; Mary M Hulihan; Marcelo Miranda; Pablo Venegas; Osvaldo Trujillo Godoy; Jennifer M Kachergus; Owen A Ross; Luis Layson; Matthew J Farrer; Juan Segura-Aguilar Journal: Neurosci Lett Date: 2007-06-17 Impact factor: 3.046