Literature DB >> 16102903

The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.

Dena Hernandez1, Coro Paisan Ruiz, Anthony Crawley, Roneil Malkani, John Werner, Katrina Gwinn-Hardy, Dennis Dickson, Fabienne Wavrant Devrieze, John Hardy, Andrew Singleton.   

Abstract

Mutations in the leucine-rich kinase 2 gene (LRRK 2) encoding dardarin, on chromosome 12, are a common cause of familial and sporadic Parkinson's disease. The most common mutation, a heterozygous 6055 G>A transition (G 2019 S) accounts for approximately 3--10% of familial Parkinson's disease and 1--8% sporadic Parkinson's disease in several European-derived populations. Some families with disease caused by LRRK 2 mutations have been reported to include patients with highly variable clinical and pathological features. We screened for the most common LRRK 2 mutation in a series of patients with Parkinson's Disease, Alzheimer's disease, Progressive Supranuclear Palsy, Multiple System Atrophy and frontotemporal dementia, as well as in neurologically normal controls. The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease.

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Year:  2005        PMID: 16102903     DOI: 10.1016/j.neulet.2005.07.044

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  31 in total

1.  Analysis of the LRRK2 G2019S mutation in Alzheimer Disease.

Authors:  Cyrus P Zabetian; Chris J Lauricella; Debby W Tsuang; James B Leverenz; Gerard D Schellenberg; Haydeh Payami
Journal:  Arch Neurol       Date:  2006-01

2.  The Roc domain of leucine-rich repeat kinase 2 is sufficient for interaction with microtubules.

Authors:  Payal N Gandhi; Xinglong Wang; Xiongwei Zhu; Shu G Chen; Amy L Wilson-Delfosse
Journal:  J Neurosci Res       Date:  2008-06       Impact factor: 4.164

3.  LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress.

Authors:  Ha Nam Nguyen; Blake Byers; Branden Cord; Aleksandr Shcheglovitov; James Byrne; Prachi Gujar; Kehkooi Kee; Birgitt Schüle; Ricardo E Dolmetsch; William Langston; Theo D Palmer; Renee Reijo Pera
Journal:  Cell Stem Cell       Date:  2011-03-04       Impact factor: 24.633

4.  The G2019S pathogenic mutation disrupts sensitivity of leucine-rich repeat kinase 2 to manganese kinase inhibition.

Authors:  Jason P Covy; Benoit I Giasson
Journal:  J Neurochem       Date:  2010-08-19       Impact factor: 5.372

5.  Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration.

Authors:  Monica Sanchez-Contreras; Michael G Heckman; Pawel Tacik; Nancy Diehl; Patricia H Brown; Alexandra I Soto-Ortolaza; Elizabeth A Christopher; Ronald L Walton; Owen A Ross; Lawrence I Golbe; Neill Graff-Radford; Zbigniew K Wszolek; Dennis W Dickson; Rosa Rademakers
Journal:  Mov Disord       Date:  2016-10-06       Impact factor: 10.338

Review 6.  Neurodegenerative models in Drosophila: polyglutamine disorders, Parkinson disease, and amyotrophic lateral sclerosis.

Authors:  Surendra S Ambegaokar; Bidisha Roy; George R Jackson
Journal:  Neurobiol Dis       Date:  2010-05-31       Impact factor: 5.996

7.  Development of inducible leucine-rich repeat kinase 2 (LRRK2) cell lines for therapeutics development in Parkinson's disease.

Authors:  Liang Huang; Mika Shimoji; Juan Wang; Salim Shah; Sukanta Kamila; Edward R Biehl; Seung Lim; Allison Chang; Kathleen A Maguire-Zeiss; Xiaomin Su; Howard J Federoff
Journal:  Neurotherapeutics       Date:  2013-10       Impact factor: 7.620

8.  Corticobasal syndrome and primary progressive aphasia as manifestations of LRRK2 gene mutations.

Authors:  A S Chen-Plotkin; W Yuan; C Anderson; E McCarty Wood; H I Hurtig; C M Clark; B L Miller; V M-Y Lee; J Q Trojanowski; M Grossman; V M Van Deerlin
Journal:  Neurology       Date:  2007-10-03       Impact factor: 9.910

9.  Update on the functional biology of Lrrk2.

Authors:  Heather Melrose
Journal:  Future Neurol       Date:  2008

10.  Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.

Authors:  Shira G Ziegler; Michael J Eblan; Usha Gutti; Kathleen S Hruska; Barbara K Stubblefield; Ozlem Goker-Alpan; Mary E LaMarca; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2007-04-25       Impact factor: 4.797

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