Sequencing of the α-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations

Jenny R. Vaughan, Matthew J. Fairer, Zbigniew K. Wszolek, Thomas Gasser, Alexandra Durr, Yves Agid, Vincenzo Bonifati, Giuseppe DeMichele, Gianpiero Volpe, Sarah Lincoln, Monique Breteler, Giuseppe Meco, Alexis Brice, C. David Marsden, John Hardy, Nicholas W. Wood

Research output: Contribution to journalArticle

112 Scopus citations

Abstract

A mutation in exon 4 of the human α-synuclein gene was reported recently in four families with autosomal dominant Parkinson's disease (PD). In order to examine whether mutations in this exon or elsewhere in the gene are common in familial PD, all seven exons of the α-synuclein gene were amplified by PCR from index cases of 30 European and American Caucasian kindreds affected with autosomal dominant PD. Each product was sequenced directly and examined for mutations in the open reading frame. No mutations were found in any of the samples examined. We conclude that the A53T change described in the α-synuclein gene is a rare cause of PD or may even be a rare variant. Mutations in the regulatory or intronic regions of the gene were not excluded by this study.

Original languageEnglish (US)
Pages (from-to)751-753
Number of pages3
JournalHuman molecular genetics
Volume7
Issue number4
DOIs
StatePublished - Apr 1 1998

    Fingerprint

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Vaughan, J. R., Fairer, M. J., Wszolek, Z. K., Gasser, T., Durr, A., Agid, Y., Bonifati, V., DeMichele, G., Volpe, G., Lincoln, S., Breteler, M., Meco, G., Brice, A., Marsden, C. D., Hardy, J., & Wood, N. W. (1998). Sequencing of the α-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. Human molecular genetics, 7(4), 751-753. https://doi.org/10.1093/hmg/7.4.751