Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease

Arch Neurol. 2005 Jan;62(1):96-8. doi: 10.1001/archneur.62.1.96.


Background: Recently, a triplication of the alpha-synuclein locus was found associated with autosomal dominant Parkinson disease in a large family.

Objective: To determine whether a triplication or some other dosage alteration in the alpha-synuclein gene is present in one or more patients with familial PD in a large multinational collective.

Design: Retrospective recruitment of the largest families who were willing to cooperate with the study.

Setting: Centers with specialization in movement disorders genetics.

Patients: One hundred ninety unrelated patients with familial PD from Germany, Portugal, and Yugoslavia.

Main outcome measures: Alpha-synuclein gene dosage values measured with real-time polymerase chain reaction.

Results: None of the samples showed alpha-synuclein triplication, duplication, or deletion.

Conclusion: Alterations in alpha-synuclein gene dosage are rare in familial PD.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Exons
  • Family Health*
  • Female
  • Gene Dosage*
  • Humans
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Parkinson Disease / genetics*
  • RNA, Messenger / biosynthesis
  • Retrospective Studies
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Synucleins
  • alpha-Synuclein


  • Nerve Tissue Proteins
  • RNA, Messenger
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein