𝔖 Bobbio Scriptorium
✦   LIBER   ✦

LRRK2 gene variation and its contribution to Parkinson disease

✍ Scribed by Coro Paisán-Ruiz

Book ID
102264805
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
178 KB
Volume
30
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Mutation in the LRRK2 gene is a known genetic cause of Parkinson disease (PD). However, due to the high frequency in which the most frequent LRRK2 mutation is present and the large size of LRRK2 gene, a complete sequence-based screening of the entire coding region has only been performed by a few researchers. In addition, normal variability in the LRRK2 gene has only been fully assessed in the North American population. Although a complete examination of the entire gene is required to assess the exact contribution of LRRK2 to the etiology of PD, more than 50 variants have been reported to date within the LRRK2 locus. Gene multiplications or deletions have not been reported so far. Here, all LRRK2 variants reported are interpreted and their contribution to the disease is examined.

📜 SIMILAR VOLUMES

LRRK2 variation and Parkinson's disease
LRRK2 variation and Parkinson's disease in African Americans
✍ Owen A. Ross; Greggory J. Wilhoite; Justin A. Bacon; Alexandra Soto-Ortolaza; Je 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 639 KB

## Abstract The global impact of __LRRK2__ mutations is yet to be realized with a lack of studies in specific ethnic groups, including those of Asian and African descent. Herein, we investigated the frequency of common __LRRK2__ variants by complete exon sequencing in a series of publicly available

Genetic etiology of Parkinson disease as
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update
✍ Karen Nuytemans; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 290 KB 👁 2 views

To date, molecular genetic analyses have identified over 500 distinct DNA variants in five disease genes associated with familial Parkinson disease; α-__synuclein__ (__SNCA__), __parkin__ (__PARK2__), __PTEN-induced putative kinase 1__ (__PINK1__), __DJ-1__ (__PARK7__), and __Leucine-rich repeat kin

Contribution of the novel inflammatory b
Contribution of the novel inflammatory bowel disease gene IL23R to disease susceptibility and phenotype
✍ J.R. Fraser Cummings; Tariq Ahmad; Alessandra Geremia; John Beckly; Rachel Coone 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB

Background: A North American genome-wide single nucleotide polymorphism (SNP) association study identified IL23R as a novel inflammatory bowel disease (IBD) susceptibility gene. Association was reported with multiple risk variants in the centromeric portion of IL23R in 3 large independent cohorts. T

Olfactory deficits and cardiac 123I-MIBG
Olfactory deficits and cardiac 123I-MIBG in Parkinson's disease related to the LRRK2 R1441G and G2019S mutations
✍ Javier Ruiz-Martínez; Ana Gorostidi; Estibaliz Goyenechea; Ainhoa Alzualde; Juan 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB

## Abstract It has been proposed that olfactory tests and metaiodobenzylguanidine cardiac scintigraphy may help diagnose idiopathic Parkinson's disease in the premotor phase. However, it is not clear what value these tests have in all patients with Parkinson's disease and, particularly, in those wh

Relevance of the genes for bone mass var
Relevance of the genes for bone mass variation to susceptibility to osteoporotic fractures and its implications to gene search for complex human diseases
✍ Hong-Wen Deng; Michael C. Mahaney; Jeff T. Williams; Jing Li; Theresa Conway; K. 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 52 KB

## Abstract We investigate the relevance of the genetic determination of bone mineral density (BMD) variation to that of differential risk to osteoporotic fractures (OF). The high heritability (__h^2^__) of BMD and the significant phenotypic correlations between high BMD and low risk to OF are well