Journal of Neurology

, Volume 253, Issue 8, pp 1071–1075 | Cite as

Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations

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


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.


Parkinson’s disease Parkin saccades blink reflex 


  1. 1.
    Adams JR, van Netten H, Schulzer M, Mak E, Mckenzie J, Strongosky A, Sossi V, Ruth TJ, Lee CS, Farrer M, Gasser T, Uitti RJ, Calne DB, Wszolek ZK, Stoessl1 AJ (2005) PET in LRRK2 mutations: comparison to sporadic Parkinson’s disease and evidence for presymptomatic compensation. Brain 128(Pt 12):2777–2785PubMedCrossRefGoogle Scholar
  2. 2.
    Basso MA, Evinger C (1996) An explanation for reflex blink hyperexcitability in Parkinson’s disease. II. Nucleus raphe magnus. J Neurosci 16:7318–7330PubMedGoogle Scholar
  3. 3.
    Basso MA, Powers AS, Evinger C (1996) An explanation for reflex blink hyperexcitability in Parkinson’s disease. I. Superior colliculus. J Neurosci 16:7308–7317PubMedGoogle Scholar
  4. 4.
    Binkofski F, Siebner H, Gaser C, Buhmann C, Hedrich K, Eimeren T, Büchel C, Pramstaller PP, Klein C (2005) Morphometric evidence for preclinical compensation in Parkin-associated parkinsonism. Neurology 64:A149Google Scholar
  5. 5.
    Eggert T, Mezger F, Robinson F, Straube A (1999) Orbital position dependency is different for the gain of externally and internally triggered saccades. Neuroreport 10:2665–2670PubMedGoogle Scholar
  6. 6.
    Esteban A, Gimenez-Roldan S (1975) Blink reflex in Huntingon’s chorea and Parkinson’s disease. Acta Neurol Scand 52:145–157PubMedCrossRefGoogle Scholar
  7. 7.
    Esteban A, Mateo D, Gimenez-Roldan S (1981) Early detection of Huntington’s disease. Blink reflex and levodopa load in presymptomatic and incipient subjects. J Neurol Neurosurg Psychiatry 44:43–48PubMedCrossRefGoogle Scholar
  8. 8.
    Guitton D, Simard R, Codere F (1991) Upper eyelid movements measured with a search coil during blinks and vertical saccades. Invest Ophthalmol Vis Sci 32:3298–3305PubMedGoogle Scholar
  9. 9.
    Hanes DP, Smith MK, Optican LM, Wurtz RH (2005) Recovery of saccadic dysmetria following localized lesions in monkey superior colliculus. Exp Brain Res 160:312–325PubMedCrossRefGoogle Scholar
  10. 10.
    Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C (2001) The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 10:1649–1656PubMedCrossRefGoogle Scholar
  11. 11.
    Kann M, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Wiegers K, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P, Klein C (2002) Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 51:621–625PubMedCrossRefGoogle Scholar
  12. 12.
    Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ (2000) Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 48:65–71PubMedCrossRefGoogle Scholar
  13. 13.
    Matsumoto H, Noro H, Kaneshige Y, Chiba S, Miyano N, Motoi Y, Yanada Y (1992) A correlation study between blink reflex habituation and clinical state in patients with Parkinson’s disease. J Neurol Sci 107:155–159PubMedCrossRefGoogle Scholar
  14. 14.
    Munoz DP, Wurtz RH (1995) Saccade-related activity in monkey superior colliculus. I. Characteristics of burst and buildup cells. J Neurophysiol 73:2313–2333PubMedGoogle Scholar
  15. 15.
    Pierrot-Deseilligny C, Rosa A, Masmoudi K, Rivaud S, Gaymard B (1991) Saccade deficits after a unilateral lesion affecting the superior colliculus. J Neurol Neurosurg Psychiatry 54:1106–1109PubMedGoogle Scholar
  16. 16.
    Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, Hedrich K, Adel S, Gonzales-McNeal M, Hilker R, Kramer PL, Klein C (2005) Lewy body Parkinson’s disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 58:411–422PubMedCrossRefGoogle Scholar
  17. 17.
    Rambold H, El Baz I, Helmchen C (2004) Differential effects of blinks on horizontal saccade and smooth pursuit initiation in humans. Exp Brain Res 156:314–324PubMedCrossRefGoogle Scholar
  18. 18.
    Rambold H, Neumann G, Sprenger A, Helmchen C (2002) Blink effect on slow vergence. Neuroreport 13:2041–2044PubMedCrossRefGoogle Scholar
  19. 19.
    Rambold H, Sprenger A, Helmchen C (2002) Effects of voluntary blinks on saccades, vergence eye movements, and saccade-vergence interactions in humans. J Neurophysiol 88:1220–1233PubMedGoogle Scholar
  20. 20.
    Rottach KG, Das VE, Wohlgemuth W, Zivotofsky AZ, Leigh RJ (1998) Properties of horizontal saccades accompanied by blinks. J Neurophysiol 79:2895–2902PubMedGoogle Scholar
  21. 21.
    Rottach KG, Riley DE, DiScenna AO, Zivotofsky AZ, Leigh RJ (1996) Dynamic properties of horizontal and vertical eye movements in parkinsonian syndromes. Ann Neurol 39:368–377PubMedCrossRefGoogle Scholar
  22. 22.
    Tweed D, Vilis T (1987) Implications of rotational kinematics for the oculomotor system in three dimensions. J Neurophysiol 58:832–849PubMedGoogle Scholar

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

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