Literature DB >> 12112109

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.

Martin Kann1, Helfried Jacobs, Kathrin Mohrmann, Kirsten Schumacher, Katja Hedrich, Jennifer Garrels, Karin Wiegers, Eberhard Schwinger, Peter P Pramstaller, Xandra O Breakefield, Laurie J Ozelius, Peter Vieregge, Christine Klein.   

Abstract

Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.

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Year:  2002        PMID: 12112109     DOI: 10.1002/ana.10179

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


  24 in total

1.  Parkin transcript variants in rat and human brain.

Authors:  Velia Dagata; Sebastiano Cavallaro
Journal:  Neurochem Res       Date:  2004-09       Impact factor: 3.996

2.  Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations.

Authors:  C Helmchen; A Schwekendiek; P P Pramstaller; K Hedrich; C Klein; H Rambold
Journal:  J Neurol       Date:  2006-06-19       Impact factor: 4.849

Review 3.  Genetics of Parkinson disease.

Authors:  Nathan Pankratz; Tatiana Foroud
Journal:  NeuroRx       Date:  2004-04

Review 4.  Progress in the pathogenesis and genetics of Parkinson's disease.

Authors:  Yoshikuni Mizuno; Nobutaka Hattori; Shin-Ichiro Kubo; Shigeto Sato; Kenya Nishioka; Taku Hatano; Hiroyuki Tomiyama; Manabu Funayama; Yutaka Machida; Hideki Mochizuki
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2008-06-27       Impact factor: 6.237

5.  Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease.

Authors:  E K Tan; H Shen; J M M Tan; K L Lim; S Fook-Chong; W P Hu; M C Paterson; V R Chandran; K Yew; C Tan; Y Yuen; R Pavanni; M C Wong; K Puvan; Y Zhao
Journal:  Neurogenetics       Date:  2005-08-06       Impact factor: 2.660

Review 6.  The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.

Authors:  David N Hauser; Christopher T Primiani; Mark R Cookson
Journal:  Curr Protein Pept Sci       Date:  2017       Impact factor: 3.272

Review 7.  Genetics of parkin-linked disease.

Authors:  Andrew B West; Nigel T Maidment
Journal:  Hum Genet       Date:  2004-01-15       Impact factor: 4.132

8.  Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

Authors:  N Pankratz; D K Kissell; M W Pauciulo; C A Halter; A Rudolph; R F Pfeiffer; K S Marder; T Foroud; W C Nichols
Journal:  Neurology       Date:  2009-07-28       Impact factor: 9.910

Review 9.  Disturbance of iron metabolism as a contributing factor to SN hyperechogenicity in Parkinson's disease: implications for idiopathic and monogenetic forms.

Authors:  Daniela Berg
Journal:  Neurochem Res       Date:  2007-04-28       Impact factor: 3.996

10.  Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.

Authors:  Yuanjia Wang; Lorraine N Clark; Elan D Louis; Helen Mejia-Santana; Juliette Harris; Lucien J Cote; Cheryl Waters; Howard Andrews; Blair Ford; Steven Frucht; Stanley Fahn; Ruth Ottman; Daniel Rabinowitz; Karen Marder
Journal:  Arch Neurol       Date:  2008-04
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