Literature DB >> 16240353

G2019S LRRK2 mutation in French and North African families with Parkinson's disease.

Suzanne Lesage1, Pablo Ibanez, Ebba Lohmann, Pierre Pollak, François Tison, Myriem Tazir, Anne-Louise Leutenegger, Joao Guimaraes, Anne-Marie Bonnet, Yves Agid, Alexandra Dürr, Alexis Brice.   

Abstract

Mutations in LRRK2 were recently identified in autosomal dominant Parkinson's disease (PD), including the G2019S mutation. To evaluate its frequency, we analyzed 198 probands with autosomal dominant PD, mostly from France and North Africa. Surprisingly, the frequency in North African families (7/17, 41%) was greater than those from Europe (5/174, 2.9%). The clinical features in 21 patients, including 1 with a homozygous mutation, were those of typical PD, with lower Mini-Mental State Examination scores. There were also 15 unaffected mutation carriers, aged 32 to 74 years. LRRK2 mutations appear to be a common cause of autosomal dominant PD, particularly in North Africa.

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Year:  2005        PMID: 16240353     DOI: 10.1002/ana.20636

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  55 in total

1.  Clinical expression of LRRK2 G2019S mutations in the elderly.

Authors:  Marta San Luciano; Richard B Lipton; Cuiling Wang; Mindy Katz; Molly E Zimmerman; Amy E Sanders; Laurie J Ozelius; Susan B Bressman; Rachel Saunders-Pullman
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Authors:  Jason R Cannon; J Timothy Greenamyre
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Authors:  Amaal AlDakheel; Lorraine V Kalia; Anthony E Lang
Journal:  Neurotherapeutics       Date:  2014-01       Impact factor: 7.620

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

Review 5.  Role of LRRK2 kinase dysfunction in Parkinson disease.

Authors:  Azad Kumar; Mark R Cookson
Journal:  Expert Rev Mol Med       Date:  2011-06-13       Impact factor: 5.600

6.  A study of six point mutation analysis of LRRK2 gene in Chinese mainland patients with Parkinson's disease.

Authors:  Z X Hu; D T Peng; M Cai; J L Pu; X G Lei; X Z Yin; Z Y Ou-Yang; W Luo; B R Zhang
Journal:  Neurol Sci       Date:  2011-01-14       Impact factor: 3.307

7.  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

8.  Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.

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Journal:  J Genet Couns       Date:  2017-06-30       Impact factor: 2.537

9.  Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease.

Authors:  Corinne Lautier; Stefano Goldwurm; Alexandra Dürr; Barbara Giovannone; William G Tsiaras; Gianni Pezzoli; Alexis Brice; Robert J Smith
Journal:  Am J Hum Genet       Date:  2008-03-20       Impact factor: 11.025

10.  Genetic neuropathology of Parkinson's disease.

Authors:  Mark R Cookson; John Hardy; Patrick A Lewis
Journal:  Int J Clin Exp Pathol       Date:  2008-01-01
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