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Arch Neurol. 2006 Sep;63(9):1250-4.

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

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  • 1Department of Public Health and Primary Care, University of Cambridge, Cambridge, England.

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.

PMID:
16966502
[PubMed - indexed for MEDLINE]
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