Journal of Neurology

, Volume 253, Issue 8, pp 1071–1075

Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations

  • C. Helmchen
  • A. Schwekendiek
  • P.P. Pramstaller
  • K. Hedrich
  • C. Klein
  • H. Rambold
ORIGINAL COMMUNICATION

DOI: 10.1007/s00415-006-0168-1

Cite this article as:
Helmchen, C., Schwekendiek, A., Pramstaller, P. et al. J Neurol (2006) 253: 1071. doi:10.1007/s00415-006-0168-1

Abstract

We investigated saccades, eyelid blinks, and their interaction in symptomatic (n = 22) and asymptomatic (n = 31) subjects with (n = 19) and without (n = 34) Parkin mutations. Saccadic hypometria was correlated with clinical symptoms of Parkinson’s disease, irrespective of mutational status. By contrast, blink amplitude was increased in carriers of Parkin mutations independent of their clinical status. Saccade main sequence and blink effects on saccades were normal. We propose that increased blink amplitude may serve as an endophenotype in carriers of Parkin mutations.

Keywords

Parkinson’s diseaseParkinsaccadesblink reflex

Copyright information

© Steinkopff Verlag Darmstadt 2006

Authors and Affiliations

  • C. Helmchen
    • 1
  • A. Schwekendiek
    • 1
  • P.P. Pramstaller
    • 3
    • 4
  • K. Hedrich
    • 1
    • 2
  • C. Klein
    • 1
    • 2
  • H. Rambold
    • 1
  1. 1.Dept. of NeurologyUniversity of LübeckLübeckGermany
  2. 2.Dept. of Human GeneticsUniversity of LuebeckGermany
  3. 3.Dept. of NeurologyGeneral Regional Hospital BolzanoBolzanoItaly
  4. 4.Institute of Genetic Medicine, EURAC ResearchBolzanoItaly