Literature DB >> 9708553

The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.

J Vaughan1, A Durr, J Tassin, B Bereznai, T Gasser, V Bonifati, G De Michele, E Fabrizio, G Volpe, O Bandmann, W G Johnson, L I Golbe, M Breteler, G Meco, Y Agid, A Brice, C D Marsden, N W Wood.   

Abstract

We report the results of a screen of 230 European familial index cases of Parkinson's disease for the recently described Ala53Thr mutation in the alpha-synuclein gene in an autosomal dominant Parkinson's disease kindred. No mutations were found from this broad white population, and we therefore conclude that although of great interest, this mutation is a very rare cause of familial Parkinson's disease.

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Year:  1998        PMID: 9708553     DOI: 10.1002/ana.410440221

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


  9 in total

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Authors:  H van der Putten; K H Wiederhold; A Probst; S Barbieri; C Mistl; S Danner; S Kauffmann; K Hofele; W P Spooren; M A Ruegg; S Lin; P Caroni; B Sommer; M Tolnay; G Bilbe
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Authors:  C Lo Bianco; J-L Ridet; B L Schneider; N Deglon; P Aebischer
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Review 6.  Genetics of parkinsonism.

Authors:  Alistair J Lewthwaite; David J Nicholl
Journal:  Curr Neurol Neurosci Rep       Date:  2005-09       Impact factor: 5.081

7.  Genetics of Parkinson's disease.

Authors:  Thomas Gasser
Journal:  Dialogues Clin Neurosci       Date:  2004-09       Impact factor: 5.986

Review 8.  Iron regulatory protein (IRP)-iron responsive element (IRE) signaling pathway in human neurodegenerative diseases.

Authors:  Zhi Dong Zhou; Eng-King Tan
Journal:  Mol Neurodegener       Date:  2017-10-23       Impact factor: 14.195

Review 9.  The Genetics of Parkinson's Disease and Implications for Clinical Practice.

Authors:  Jacob Oliver Day; Stephen Mullin
Journal:  Genes (Basel)       Date:  2021-06-30       Impact factor: 4.096

  9 in total

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