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

Dena Hernandez, Coro Paisan Ruiz, Anthony Crawley, Roneil Malkani, John Werner, Katrina Gwinn-Hardy, Dennis Dickson, Fabienne Wavrant DeVrieze, John Hardy, Andrew Singleton

Research output: Contribution to journalArticle

82 Scopus citations

Abstract

Mutations in the leucine-rich kinase 2 gene (LRRK2) encoding dardarin, on chromosome 12, are a common cause of familial and sporadic Parkinson's disease. The most common mutation, a heterozygous 6055G > A transition (G2019S) 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 LRRK2 mutations have been reported to include patients with highly variable clinical and pathological features. We screened for the most common LRRK2 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.

Original languageEnglish (US)
Pages (from-to)137-139
Number of pages3
JournalNeuroscience Letters
Volume389
Issue number3
DOIs
StatePublished - Dec 9 2005

Keywords

  • Dardarin genetics
  • Dementia
  • LRRK2
  • Parkinson's disease
  • Parkinsonism

ASJC Scopus subject areas

  • Neuroscience(all)

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    Hernandez, D., Ruiz, C. P., Crawley, A., Malkani, R., Werner, J., Gwinn-Hardy, K., Dickson, D., DeVrieze, F. W., Hardy, J., & Singleton, A. (2005). The dardarin G2019S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases. Neuroscience Letters, 389(3), 137-139. https://doi.org/10.1016/j.neulet.2005.07.044