Alpha-synuclein repeat variants and survival in Parkinson's disease

Sun Ju Chung, Joanna M Biernacka, Sebastian M Armasu, Kari Anderson, Roberta Frigerio, Jan O Aasly, Grazia Annesi, Anna Rita Bentivoglio, Laura Brighina, Marie-Christine Chartier-Harlin, Stefano Goldwurm, Georgios Hadjigeorgiou, Barbara Jasinska-Myga, Beom Seok Jeon, Yun Joong Kim, Rejko Krüger, Suzanne Lesage, Katerina Markopoulou, George Mellick, Karen E MorrisonAndreas Puschmann, Eng-King Tan, David Crosiers, Jessie Theuns, Christine Van Broeckhoven, Karin Wirdefeldt, Zbigniew K Wszolek, Alexis Elbaz, Demetrius M Maraganore, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium, Karen Morrison

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


OBJECTIVES: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD).

METHODS: Investigators from the Genetic Epidemiology of Parkinson's Disease Consortium provided REP1 genotypes and baseline and follow-up clinical data for cases. The primary outcome was time to death. Cox proportional hazards regression models were used to assess the association of REP1 genotypes with survival.

RESULTS: Twenty-one sites contributed data for 6,154 cases. There was no significant association between α-synuclein REP1 genotypes and survival in PD. However, there was a significant association between REP1 genotypes and age at onset of PD (hazard ratio: 1.06; 95% confidence interval: 1.01-1.10; P value = 0.01).

CONCLUSIONS: In our large consortium study, α-synuclein REP1 genotypes were not associated with survival in PD. Further studies of α-synuclein's role in disease progression and long-term outcomes are needed.

Original languageEnglish
Pages (from-to)1053-7
Number of pages5
JournalMovement Disorders
Issue number8
Publication statusPublished - Jul 2014

Bibliographical note

© 2014 International Parkinson and Movement Disorder Society.


  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Dinucleotide Repeats
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • International Cooperation
  • Male
  • Middle Aged
  • Parkinson Disease
  • Survival
  • alpha-Synuclein


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