Essential tremor and the common LRRK2 G2385R variant
| Autor: | Eng-King Tan, Yih Yuen, Jasinda H. Lee, Hui-Qin Lim, Yi Zhao |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Genotype Essential Tremor DNA Mutational Analysis Population Glycine Disease Protein Serine-Threonine Kinases Biology Arginine Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Gastroenterology Cohort Studies Gene Frequency Internal medicine Confidence Intervals Odds Ratio medicine Humans Genetic Predisposition to Disease education Aged education.field_of_study Essential tremor Mean age Middle Aged medicine.disease LRRK2 Pathophysiology Increased risk Neurology Cohort Female Neurology (clinical) Geriatrics and Gerontology |
| Zdroj: | Parkinsonism & Related Disorders. 14:569-571 |
| ISSN: | 1353-8020 |
| DOI: | 10.1016/j.parkreldis.2007.12.003 |
| Popis: | Co-existence of Parkinson's disease (PD) and essential tremor (ET) suggests a possible overlapping pathophysiology between these two conditions. PD patients with leucine-rich repeat kinase-2 ( LRRK2 ) mutations have been reported to present initially with ET. A common LRRK2 Gly2385Arg variant has been widely shown to be associated with a two fold increased risk of PD in various Asian populations. We analyzed the Gly2385Arg variant in a cohort of ET and controls. A total of 419 subjects comprising of 172 ET and 247 controls were included. The mean age, age at onset of ET, and age of controls were 52.1 ± 19.6, 41.8 ± 21.6, and 62.2 ± 11.6 years, comprising of 53.0% and 54.3% men, respectively. The Gly2385Arg variant was demonstrated in 5/172 (2.9%) ET patients compared to 10/247 (4.0%) of controls (odds ratio = 0.72, 95% CI 0.24, 2.1, p = 0.6). All the Gly2385Arg carriers were heterozygotes. The LRRK2 Gly2385Arg variant is not a significant risk factor for ET in our population. |
| Databáze: | OpenAIRE |
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