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Neuroscience Letters
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Neuroscience Letters
Article . 2005 . Peer-reviewed
License: Elsevier TDM
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The dardarin G2019S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

Authors: Dena, Hernandez; Coro, Paisan Ruiz; Anthony, Crawley; Roneil, Malkani; John, Werner; Katrina, Gwinn-Hardy; Dennis, Dickson; +3 Authors

The dardarin G2019S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

Abstract

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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Keywords

Male, Polymorphism, Genetic, Incidence, DNA Mutational Analysis, Neurodegenerative Diseases, Parkinson Disease, Middle Aged, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Risk Assessment, United States, Risk Factors, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Aged

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
OpenAIRE UsageCountsViews provided by UsageCounts
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88
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