Mutational analysis of parkin and PINK1 in multiple system atrophy

Janet A. Brooks, Henry Houlden, Anna Melchers, Ansha J. Islam, Jinhui Ding, Abi Li, Reema Paudel, Tamas Revesz, Janice L. Holton, Nick Wood, Andrew Lees, Andrew B. Singleton, Sonja W. Scholz

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Multiple system atrophy (MSA) and Parkinson's disease (PD) are progressive neurodegenerative disorders with overlapping clinical, biochemical and genetic features. To test the hypothesis that the PD genes parkin and PINK1 also play a role in the pathogenesis of MSA, we performed a mutational screening study involving 87 pathologically proven MSA cases. In parkin we identified eight sequence variants and four heterozygous deletions and in PINK1 we identified nine variants of which two silent mutations have not been previously reported (p.Gly189Gly and p.Arg337Arg). The frequencies of the observed variants were not significantly different from previously published control data and none of the possibly pathogenic variants were found in a homozygous state. Our results indicate that genetic variants at the parkin and PINK1 loci do not play a critical role in the pathogenesis of MSA.

Original languageEnglish
Pages (from-to)548.e5-548.e7
JournalNeurobiology of Aging
Volume32
Issue number3
DOIs
StatePublished - Mar 2011
Externally publishedYes

Keywords

  • Multiple system atrophy
  • Parkin
  • Parkinson's disease
  • PINK1

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