Funding agencies: This study was supported by an EFNS fellowship to Dr. Chiara Criscuolo and by a research grant from the Internationaal Parkinson Fonds (The Netherlands) to Dr. Vincenzo Bonifati.
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy†
Article first published online: 29 APR 2011
Copyright © 2011 Movement Disorder Society
Volume 26, Issue 9, pages 1732–1736, 1 August 2011
How to Cite
Criscuolo, C., De Rosa, A., Guacci, A., Simons, E. J., Breedveld, G. J., Peluso, S., Volpe, G., Filla, A., Oostra, B. A., Bonifati, V. and De Michele, G. (2011), The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy. Mov. Disord., 26: 1732–1736. doi: 10.1002/mds.23735
Relevant conflicts of interest/financial disclosures: Nothing to report.
Full financial disclosures and author roles may be found in the online version of this article.
- Issue published online: 9 AUG 2011
- Article first published online: 29 APR 2011
- Manuscript Accepted: 24 FEB 2011
- Manuscript Revised: 22 FEB 2011
- Manuscript Received: 11 DEC 2010
- leucine-rich repeat kinase 2;
Mutations in the leucine-rich repeat kinase 2 gene are the most frequent cause of familial and sporadic Parkinson's disease, and G2019S is the most common leucine-rich repeat kinase 2 mutation across several Mediterranean countries.
One hundred ninety-two patients with Parkinson's disease from Campania, a region in southern Italy, were screened for R1441C/H/G and G2019S by direct sequencing and SfcI digestion.
Among 192 patients with Parkinson's disease (mean age ± SD, 63.9 ± 11.8 years; disease onset, 54.0 ± 12.5 years; family history for Parkinson's disease or tremor, 45%), 8 carried a heterozygous R1441C mutation, whereas only 1 had the G2019S mutation. All R1441C patients originate from the province of Naples and share the same haplotype, suggesting a founder effect.
G2019S is not ubiquitously the most common leucine-rich repeat kinase 2 mutation; in Campania R1441C is more frequent. Region-specific mutation prevalence data should be taken into account for a sensitive and cost-effective molecular diagnosis and counseling of patients with Parkinson's disease. © 2011 Movement Disorder Society