𝔖 Bobbio Scriptorium
✦   LIBER   ✦

R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation

✍ Scribed by William C. Nichols; Diane K. Marek; Michael W. Pauciulo; Nathan Pankratz; Cheryl A. Halter; Alice Rudolph; Clifford W. Shults; Joanne Wojcieszek; Tatiana Foroud

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
66 KB
Volume
22
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Mutations in LRRK2 were first reported as causing Parkinson's disease (PD) in late 2004. Since then, approximately a dozen LRRK2 substitutions have been identified that are believed to be pathogenic mutations. The substitution of adenine for guanine at nucleotide 4541 (4541G>A) in LRRK2 was recently reported. This substitution resulted in the replacement of an arginine at position 1514 with a glutamine (R1514Q). Although this substitution was not found in a large cohort of controls, its pathogenicity could not be verified. We have now genotyped the R1514Q substitution in a sample of 954 PD patients from 429 multiplex PD families. This substitution was identified in 1.8% of the PD patients; however, the majority of the PD sibships segregating this substitution were discordant for this putative mutation. In addition, the R1514Q substitution was detected in 1.4% of neurologically evaluated, control individuals. These data suggest that the R1514Q variant is not a pathogenic LRRK2 mutation. We believe it is imperative that the causative nature of any newly identified genetic variant be determined before it is included in any panel for diagnostic testing. © 2006 Movement Disorder Society

📜 SIMILAR VOLUMES

Pathogenicity of the Lrrk2 R1514Q substi
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
✍ Mathias Toft; Ignacio F. Mata; Owen A. Ross; Jennifer Kachergus; Mary M. Hulihan 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 92 KB

## Abstract An increasing number of nonsynonymous __LRRK2__ variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case–control serie

Novel pathogenic LRRK2 p.Asn1437His subs
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
✍ Jan O. Aasly; Carles Vilariño-Güell; Justus C. Dachsel; Philip J. Webber; Andrew 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 608 KB

## Abstract Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed a novel pathogenic __LRRK2__ mutation c.4309 A>C (p.Asn1437His) that co‐segregates with diseas

LRRK2 haplotype-sharing analysis in Park
LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation
✍ Oswaldo Lorenzo-Betancor; Lluís Samaranch; Mario Ezquerra; Eduardo Tolosa; Elena 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 1006 KB

## Abstract ## Background and objective. Mutations in the __Leucine‐Rich Repeat Kinase 2__ (__LRRK2__) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late‐onset Parkinson's disease. Our aim was to identify novel __LRRK2__ mutations in late‐onset Parkinson's dis

A novel LRRK2 mutation in an Austrian co
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease
✍ Dietrich Haubenberger; Silvia Bonelli; Christoph Hotzy; Petra Leitner; Peter Lic 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 110 KB 👁 1 views

## Abstract To investigate the frequency of mutations in the Leucine‐Rich Repeat Kinase 2 gene (__LRRK2__) in a sample of Austrian Parkinson's disease (PD) patients, we sequenced the complete coding region in 16 patients with autosomal dominant PD. Furthermore, we sequenced exons 31, 35, and 41 add

Parkinson's disease and LRRK2: Frequency
Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics
✍ Denise M. Kay; Cyrus P. Zabetian; Stewart A. Factor; John G. Nutt; Ali Samii; Al 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 1 views

## Abstract The G2019S mutation in the __LRRK2__ gene is reportedly a common cause of familial Parkinson's disease (PD) and may also have a significant role in nonfamilial PD. The objective of this study was to assess mutation carrier frequency in PD patients from movement disorder clinics in the U