Literature DB >> 15966003

Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study.

Samer Karamohamed1, L I Golbe, M H Mark, A M Lazzarini, O Suchowersky, N Labelle, Mark Guttman, L J Currie, G F Wooten, M Stacy, M Saint-Hilaire, R G Feldman, J Liu, C M Shoemaker, J B Wilk, A L DeStefano, J C Latourelle, G Xu, R Watts, J Growdon, M Lew, C Waters, P Vieregge, P P Pramstaller, C Klein, B A Racette, J S Perlmutter, A Parsian, Carlos Singer, E Montgomery, K Baker, J F Gusella, A Herbert, R H Myers.   

Abstract

Parkinson's disease (PD) is a neurodegenerative disorder in which relatives of the probands are affected approximately 4 times as frequently as relatives of control subjects. Several genes have been implicated as genetic risk factors for PD. We investigated the presence of six reported genetic variations in the SCNA, NR4A2, and DJ-1 genes in 292 cases of familial Parkinson's disease from the GenePD study. None of the variants were found in the GenePD families. Our results suggest that other variants or genes account for the familial risk of PD within the GenePD study. (c) 2005 Movement Disorder Society.

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Year:  2005        PMID: 15966003     DOI: 10.1002/mds.20515

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


  8 in total

1.  Mutations in DJ-1 are rare in familial Parkinson disease.

Authors:  Nathan Pankratz; Michael W Pauciulo; Veronika E Elsaesser; Diane K Marek; Cheryl A Halter; Joanne Wojcieszek; Alice Rudolph; Clifford W Shults; Tatiana Foroud; William C Nichols
Journal:  Neurosci Lett       Date:  2006-09-25       Impact factor: 3.046

2.  Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

Authors:  Elisenda Cortès-Saladelafont; Noa Lipstein; Àngels García-Cazorla
Journal:  J Inherit Metab Dis       Date:  2018-07-18       Impact factor: 4.982

3.  Copy number variation in familial Parkinson disease.

Authors:  Nathan Pankratz; Alexandra Dumitriu; Kurt N Hetrick; Mei Sun; Jeanne C Latourelle; Jemma B Wilk; Cheryl Halter; Kimberly F Doheny; James F Gusella; William C Nichols; Richard H Myers; Tatiana Foroud; Anita L DeStefano
Journal:  PLoS One       Date:  2011-08-02       Impact factor: 3.240

4.  Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.

Authors:  J E Tobin; J C Latourelle; M F Lew; C Klein; O Suchowersky; H A Shill; L I Golbe; M H Mark; J H Growdon; G F Wooten; B A Racette; J S Perlmutter; R Watts; M Guttman; K B Baker; S Goldwurm; G Pezzoli; C Singer; M H Saint-Hilaire; A E Hendricks; S Williamson; M W Nagle; J B Wilk; T Massood; J M Laramie; A L DeStefano; I Litvan; G Nicholson; A Corbett; S Isaacson; D J Burn; P F Chinnery; P P Pramstaller; S Sherman; J Al-hinti; E Drasby; M Nance; A T Moller; K Ostergaard; R Roxburgh; B Snow; J T Slevin; F Cambi; J F Gusella; R H Myers
Journal:  Neurology       Date:  2008-05-28       Impact factor: 9.910

5.  Characterisation of a novel NR4A2 mutation in Parkinson's disease brain.

Authors:  P M A Sleiman; D G Healy; M M K Muqit; Y X Yang; M Van Der Brug; J L Holton; T Revesz; N P Quinn; K Bhatia; J K J Diss; A J Lees; M R Cookson; D S Latchman; N W Wood
Journal:  Neurosci Lett       Date:  2009-03-11       Impact factor: 3.046

6.  Genomewide association study for onset age in Parkinson disease.

Authors:  Jeanne C Latourelle; Nathan Pankratz; Alexandra Dumitriu; Jemma B Wilk; Stefano Goldwurm; Gianni Pezzoli; Claudio B Mariani; Anita L DeStefano; Cheryl Halter; James F Gusella; William C Nichols; Richard H Myers; Tatiana Foroud
Journal:  BMC Med Genet       Date:  2009-09-22       Impact factor: 2.103

7.  Genomewide association study for susceptibility genes contributing to familial Parkinson disease.

Authors:  Nathan Pankratz; Jemma B Wilk; Jeanne C Latourelle; Anita L DeStefano; Cheryl Halter; Elizabeth W Pugh; Kimberly F Doheny; James F Gusella; William C Nichols; Tatiana Foroud; Richard H Myers
Journal:  Hum Genet       Date:  2008-11-06       Impact factor: 4.132

8.  Principal component analysis characterizes shared pathogenetics from genome-wide association studies.

Authors:  Diana Chang; Alon Keinan
Journal:  PLoS Comput Biol       Date:  2014-09-11       Impact factor: 4.475

  8 in total

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