Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
نویسندگان
چکیده
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.
منابع مشابه
Clinical heterogeneity of the LRRK2 G2019S mutation.
BACKGROUND Several pathogenic mutations have been reported in the leucine-rich repeat kinase 2 gene (LRRK2) that cause parkinsonism. The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease. OBJECTIVE To observe the clinical heterogeneity presented by LRRK2 kinase mutation carriers. DESIGN, SETTIN...
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عنوان ژورنال:
- Archives of neurology
دوره 63 9 شماره
صفحات -
تاریخ انتشار 2006