scholarly journals LRRK2 Screening in a Canadian Parkinson's Disease Cohort

2007 ◽  
Vol 34 (3) ◽  
pp. 336-338 ◽  
Author(s):  
D. A. Grimes ◽  
L. Racacho ◽  
F. Han ◽  
M. Panisset ◽  
D. E. Bulman
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
High Performance Liquid Chromatography ◽  
High Performance ◽  
Sequence Variants ◽  
Leucine Rich Repeat ◽  
Novel Mutations ◽  
Intronic Sequence ◽  
G2019s Mutation ◽  
Lrrk2 Gene

Background:Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have become the most common known cause for developing Parkinson's disease. The frequency of mutations described in the literature varies widely depending on the population studied with most reports focusing only on screening for the most common G2019S mutation in exon 41.Methods:In this study seven exons (19, 24, 25, 31, 35, 38, and 41) in LRRK2 where mutations have been reported were screened in 230 unselected Parkinson's disease patients using denaturing high-performance liquid chromatography.Results:The sequencing of samples with heteroduplex profiles revealed five novel and two known intronic sequence variants. In our cohort, we were unable to detect any of the known mutations in these exons or identify novel mutations within the LRRK2 gene.Conclusions:Therefore, despite the availability of diagnostic LRRK2 genetic testing it is unlikely to yield a positive result in this population.

Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy

2009 ◽  
Vol 15 (3) ◽  
pp. 242-244 ◽  
Author(s):  
Anna De Rosa ◽  
Chiara Criscuolo ◽  
Pietro Mancini ◽  
Marina De Martino ◽  
Ilaria Anna Giordano ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Screening ◽  
Southern Italy ◽  
G2019s Mutation ◽  
Lrrk2 Gene

scholarly journals LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease

2009 ◽  
Vol 15 (3) ◽  
pp. 175-180 ◽  
Author(s):  
Biswanath Patra ◽  
Azemat J. Parsian ◽  
Brad A. Racette ◽  
Jing Hua Zhao ◽  
Joel S. Perlmutter ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
G2019s Mutation ◽  
Lrrk2 Gene

scholarly journals Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson’s disease

2014 ◽  
Vol 72 (5) ◽  
pp. 356-359 ◽  
Author(s):  
Hsin Fen Chien ◽  
Tamires Rocha Figueiredo ◽  
Marianna Almeida Hollaender ◽  
Fabiano Tofoli ◽  
Leonel Takao Takada ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Late Onset ◽  
Small Sample Size ◽  
Clinical Manifestations ◽  
Small Sample ◽  
Genetical Analysis ◽  
G2019s Mutation ◽  
Lrrk2 Gene ◽  
And Gender

Mutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson’s disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients.Method:We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR).Results:No G2019S mutations were found in both patients with sporadic PD and controls.Conclusions:Our results may be explained by the relatively small sample size.

G2019S Mutation of the Leucine-Rich Repeat Kinase 2 Gene in a Cohort of Egyptian Patients with Parkinson's Disease

2011 ◽  
Vol 15 (12) ◽  
pp. 861-866 ◽  
Author(s):  
Doaa I. Hashad ◽  
Abla A. Abou-Zeid ◽  
Ghada A. Achmawy ◽  
Horeya M.O. Saad Allah ◽  
Marwa A. Saad
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Leucine Rich Repeat ◽  
G2019s Mutation ◽  
Egyptian Patients

Cellular functions of LRRK2 implicate vesicular trafficking pathways in Parkinson's disease

2016 ◽  
Vol 44 (6) ◽  
pp. 1603-1610 ◽  
Author(s):  
Mark R. Cookson
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Intracellular Trafficking ◽  
Small Gtpases ◽  
Vesicular Trafficking ◽  
Leucine Rich Repeat ◽  
Cellular Functions ◽  
Lrrk2 Gene ◽  
Rab Family ◽  
Cellular Compartments

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene, associated with Parkinson's disease, have been shown to affect intracellular trafficking pathways in a variety of cells and organisms. An emerging theme is that LRRK2 can bind to multiple membranous structures in cells, and several recent studies have suggested that the Rab family of small GTPases might be important in controlling the recruitment of LRRK2 to specific cellular compartments. Once localized to membranes, LRRK2 then influences downstream events, evidenced by changes in the autophagy–lysosome pathway. Here, I will discuss available evidence that supports or challenges this outline, with a specific emphasis on those aspects of LRRK2 function that have been controversial or remain to be fully clarified.

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