The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA.
Neuroscience Letters (Impact Factor: 2.03). 12/2005; 389(3):137-9. DOI: 10.1016/j.neulet.2005.07.044
Source: PubMed


Mutations in the leucine-rich kinase 2 gene (LRRK 2) encoding dardarin, on chromosome 12, are a common cause of familial and sporadic Parkinson's disease. The most common mutation, a heterozygous 6055 G>A transition (G 2019 S) accounts for approximately 3--10% of familial Parkinson's disease and 1--8% sporadic Parkinson's disease in several European-derived populations. Some families with disease caused by LRRK 2 mutations have been reported to include patients with highly variable clinical and pathological features. We screened for the most common LRRK 2 mutation in a series of patients with Parkinson's Disease, Alzheimer's disease, Progressive Supranuclear Palsy, Multiple System Atrophy and frontotemporal dementia, as well as in neurologically normal controls. The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease.

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    • "The G2019S mutation of Leucine-rich repeat kinase 2 (LRRK2) is a relatively common autosomal dominant mutation that causes familial PD [70-72]. Nguyen et al. [60] recently reported interesting phenotypes in iPSC-derived neuronal cultures from one patient with a G2019S mutation, which they compared with neurons from one control individual. "
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    Genome Medicine 07/2011; 3(7):49. DOI:10.1186/gm265 · 5.34 Impact Factor
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    • "A common autosomal dominant missense mutation, G2019S in the Leucine- Rich Repeat Kinase 2 (LRRK2) gene, has previously been identified in 0.6%–1.6% and 2%–8% of sporadic and familial PD cases, respectively (Hernandez et al., 2005; Nichols et al., 2005; Paisan-Ruiz et al., 2005). The penetrance of the G2019S mutation is age dependent, increasing from 17% at age 50 to 85% penetrance at age 70 (Kachergus et al., 2005). "
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    • "Mutations in parkin are the second most common genetic cause of PD, after LRRK2/ dardarin (Foroud et al., 2003; Kitada et al., 1998; Klein et al., 2003) (Gilks et al., 2005; Hedrich et al., 2004; Hernandez et al., 2005; Lincoln et al., 2003). Parkin mutations originally were identified in families with autosomal recessive juvenile parkinsonism (AR- JP) (Kitada et al., 1998). "
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