Literature DB >> 16149095

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.

Jose Miguel Bras1, Rita Joao Guerreiro, Maria Helena Ribeiro, Cristina Januario, Ana Morgadinho, Catarina Resende Oliveira, Luis Cunha, John Hardy, Andrew Singleton.   

Abstract

LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice.

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Year:  2005        PMID: 16149095     DOI: 10.1002/mds.20682

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  27 in total

Review 1.  Gene-environment interactions in Parkinson's disease: specific evidence in humans and mammalian models.

Authors:  Jason R Cannon; J Timothy Greenamyre
Journal:  Neurobiol Dis       Date:  2012-07-07       Impact factor: 5.996

Review 2.  The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2.

Authors:  Vincenzo Bonifati
Journal:  Curr Neurol Neurosci Rep       Date:  2006-09       Impact factor: 5.081

Review 3.  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

Review 4.  Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications.

Authors:  Iakov N Rudenko; Mark R Cookson
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

Review 5.  PARK8 LRRK2 parkinsonism.

Authors:  Kristoffer Haugarvoll; Zbigniew K Wszolek
Journal:  Curr Neurol Neurosci Rep       Date:  2006-07       Impact factor: 5.081

6.  Ashkenazi Parkinson's disease patients with the LRRK2 G2019S mutation share a common founder dating from the second to fifth centuries.

Authors:  Anat Bar-Shira; Carolyn M Hutter; Nir Giladi; Cyrus P Zabetian; Avi Orr-Urtreger
Journal:  Neurogenetics       Date:  2009-03-13       Impact factor: 2.660

7.  Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal.

Authors:  Jose Bras; Coro Paisan-Ruiz; Rita Guerreiro; Maria Helena Ribeiro; Ana Morgadinho; Cristina Januario; Ellen Sidransky; Catarina Oliveira; Andrew Singleton
Journal:  Neurobiol Aging       Date:  2007-12-21       Impact factor: 4.673

Review 8.  Genes associated with Parkinson's disease: regulation of autophagy and beyond.

Authors:  Alexandra Beilina; Mark R Cookson
Journal:  J Neurochem       Date:  2015-09-03       Impact factor: 5.372

9.  Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.

Authors:  Carolina Perez-Pastene; Stephanie A Cobb; Fernando Díaz-Grez; Mary M Hulihan; Marcelo Miranda; Pablo Venegas; Osvaldo Trujillo Godoy; Jennifer M Kachergus; Owen A Ross; Luis Layson; Matthew J Farrer; Juan Segura-Aguilar
Journal:  Neurosci Lett       Date:  2007-06-17       Impact factor: 3.046

10.  Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium.

Authors:  C Paisán-Ruíz; E W Evans; S Jain; G Xiromerisiou; J R Gibbs; J Eerola; V Gourbali; O Hellström; J Duckworth; A Papadimitriou; P J Tienari; G M Hadjigeorgiou; A B Singleton
Journal:  J Med Genet       Date:  2006-02       Impact factor: 6.318

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