Literature DB >> 31493133

Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease.

Nicola du Toit1, Riaan van Coller2, David G Anderson3, Jonathan Carr4, Soraya Bardien5.   

Abstract

G2019S in LRRK2 is the most common mutation associated with Parkinson's disease (PD). Highest frequencies are in North African Arabic (30-41%) and Ashkenazi Jewish (6-30%) populations, mostly due to founder effects. Here, we investigated the frequency of G2019S in 647 unrelated South African PD patients from different ancestral origins. It was found in only 1.2% (8/647) of patients. Notably, none of the 91 individuals of African ancestry had G2019S. It was present in 1.9% (3/154) and 1% (5/493) of early- and late-onset cases, respectively. The frequency of G2019S exhibits ethnic-specific differences and warrants further study in sub-Saharan African populations.

Entities:  

Keywords:  G2019S mutation; LRRK2 gene; Parkinson’s disease; Phenotype; South African patients

Mesh：

Substances：

Year:  2019        PMID： 31493133     DOI： 10.1007/s10048-019-00588-z

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  19 in total

1.  LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.

Authors:  Suzanne Lesage; Alexandra Dürr; Meriem Tazir; Ebba Lohmann; Anne-Louise Leutenegger; Sabine Janin; Pierre Pollak; Alexis Brice
Journal:  N Engl J Med       Date:  2006-01-26       Impact factor: 91.245

2.  Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.

Authors:  Andrew B West; Darren J Moore; Catherine Choi; Shaida A Andrabi; Xiaojie Li; Dustin Dikeman; Saskia Biskup; Zhenshui Zhang; Kah-Leong Lim; Valina L Dawson; Ted M Dawson
Journal:  Hum Mol Genet       Date:  2007-01-02       Impact factor: 6.150

3.  Fall risk and gait in Parkinson's disease: the role of the LRRK2 G2019S mutation.

Authors:  Anat Mirelman; Talia Heman; Kira Yasinovsky; Avner Thaler; Tanya Gurevich; Karen Marder; Susan Bressman; Anat Bar-Shira; Avi Orr-Urtreger; Nir Giladi; Jeffrey M Hausdorff
Journal:  Mov Disord       Date:  2013-10-07       Impact factor: 10.338

Review 4.  The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.

Authors:  Avner Thaler; Elissa Ash; Ziv Gan-Or; Avi Orr-Urtreger; Nir Giladi
Journal:  J Neural Transm (Vienna)       Date:  2009-11       Impact factor: 3.575

5.  LRRK2 G2019S mutation: frequency and haplotype data in South African Parkinson's disease patients.

Authors:  Soraya Bardien; Angelica Marsberg; Rowena Keyser; Debbie Lombard; Suzanne Lesage; Alexis Brice; Jonathan Carr
Journal:  J Neural Transm (Vienna)       Date:  2010-06-11       Impact factor: 3.575

6.  Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Authors:  Suzanne Lesage; Etienne Patin; Christel Condroyer; Anne-Louise Leutenegger; Ebba Lohmann; Nir Giladi; Anat Bar-Shira; Soraya Belarbi; Nassima Hecham; Pierre Pollak; Anne-Marie Ouvrard-Hernandez; Soraya Bardien; Jonathan Carr; Traki Benhassine; Hiroyuki Tomiyama; Caroline Pirkevi; Tarik Hamadouche; Cécile Cazeneuve; A Nazli Basak; Nobutaka Hattori; Alexandra Dürr; Meriem Tazir; Avi Orr-Urtreger; Lluis Quintana-Murci; Alexis Brice
Journal:  Hum Mol Genet       Date:  2010-03-02       Impact factor: 6.150

7.  Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

Authors:  Daniel G Healy; Mario Falchi; Sean S O'Sullivan; Vincenzo Bonifati; Alexandra Durr; Susan Bressman; Alexis Brice; Jan Aasly; Cyrus P Zabetian; Stefano Goldwurm; Joaquim J Ferreira; Eduardo Tolosa; Denise M Kay; Christine Klein; David R Williams; Connie Marras; Anthony E Lang; Zbigniew K Wszolek; Jose Berciano; Anthony H V Schapira; Timothy Lynch; Kailash P Bhatia; Thomas Gasser; Andrew J Lees; Nicholas W Wood
Journal:  Lancet Neurol       Date:  2008-06-06       Impact factor: 44.182

Review 8.  Worldwide frequency of G2019S LRRK2 mutation in Parkinson's disease: a systematic review.

Authors:  L Correia Guedes; J J Ferreira; M M Rosa; M Coelho; V Bonifati; C Sampaio
Journal:  Parkinsonism Relat Disord       Date:  2009-11-30       Impact factor: 4.891

9.  Genetic structure of a unique admixed population: implications for medical research.

Authors:  Nick Patterson; Desiree C Petersen; Richard E van der Ross; Herawati Sudoyo; Richard H Glashoff; Sangkot Marzuki; David Reich; Vanessa M Hayes
Journal:  Hum Mol Genet       Date:  2009-11-05       Impact factor: 6.150

10.  Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.

Authors:  Roy N Alcalay; Anat Mirelman; Rachel Saunders-Pullman; Ming-X Tang; Helen Mejia Santana; Deborah Raymond; Ernest Roos; Martha Orbe-Reilly; Tanya Gurevich; Anat Bar Shira; Mali Gana Weisz; Kira Yasinovsky; Maayan Zalis; Avner Thaler; Andres Deik; Matthew James Barrett; Jose Cabassa; Mark Groves; Ann L Hunt; Naomi Lubarr; Marta San Luciano; Joan Miravite; Christina Palmese; Rivka Sachdev; Harini Sarva; Lawrence Severt; Vicki Shanker; Matthew Carrington Swan; Jeannie Soto-Valencia; Brooke Johannes; Robert Ortega; Stanley Fahn; Lucien Cote; Cheryl Waters; Pietro Mazzoni; Blair Ford; Elan Louis; Oren Levy; Llency Rosado; Diana Ruiz; Tsvyatko Dorovski; Michael Pauciulo; William Nichols; Avi Orr-Urtreger; Laurie Ozelius; Lorraine Clark; Nir Giladi; Susan Bressman; Karen S Marder
Journal:  Mov Disord       Date:  2013-10-15       Impact factor: 10.338
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  2 in total

1.  Copy Number Variation in Parkinson's Disease: An Update from Sub-Saharan Africa.

Authors:  Amica C Müller-Nedebock; Morenikeji A Komolafe; Michael B Fawale; Jonathan A Carr; Francois H van der Westhuizen; Owen A Ross; Soraya Bardien
Journal:  Mov Disord       Date:  2021-07-06       Impact factor: 9.698

2.  Curcumin pre-treatment may protect against mitochondrial damage in LRRK2-mutant Parkinson's disease and healthy control fibroblasts.

Authors:  Shameemah Abrahams; Hayley C Miller; Carl Lombard; Francois H van der Westhuizen; Soraya Bardien
Journal:  Biochem Biophys Rep       Date:  2021-06-16
  2 in total

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