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Risks and Dangers From Hyperekplexia and Other Startle Disorders

  • Frederick Andermann
  • Eva Andermann
Part of the Current Clinical Neurology book series (CCNEU)

Abstract

A neurological consultation is requested in the neonatal intensive care unit for a newborn infant who is noted to be extremely jittery. On examination, the baby is neurologically normal except for exaggerated response to tactile and auditory stimuli, lack of habituation on nose tap, and an exaggerated and sustained Moro response. Resting tone is markedly increased, particularly in axial muscles. On one occasion, a flurry of monitor noises triggers jerks and sustained stiffening that produce a 30-second apneic pause. Based on the examination, hyperekplexia is diagnosed, and clonazepam markedly attenuates the startle and stiffening. Screen of the patient’s family reveals one other affected child, who startles to loud noises.

Keywords

Down Syndrome Inhibitory Glycine Receptor Startle Disease Movement Disorder Emergency Monitor Noise 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Brown P, Day BL, Rothwell JC, Thompson PD, Marsden CD. The effect of a posture on the normal and pathological auditory startle reflex. J Neurosurg Psychiatry 1991;54(10):892–897.Google Scholar
  2. 2.
    Andermann F, Andermann E. Excessive reflex syndromes: startle disease, jumping, and startle epilepsy. Adv Neurol 1986;43:321–338.PubMedGoogle Scholar
  3. 3.
    Alajouanine T, Gastaut H. La syncinésie-sursaut etl’épilépsie-sursaut à déclanchement sensoriel or sensitif inopiné. I. Les faits anatomo-cliniques (15 observations). Revue Neurologique 1955;93:29–41.PubMedGoogle Scholar
  4. 4.
    Kirstein L, Silfverskjold B. A family with emotionally precipitated drop seizures. Acta Psychiatr Scand 1958;33:417–476.CrossRefGoogle Scholar
  5. 5.
    Kok O, Bruyn GW. An unidentified hereditary disease. Lancet 1962;I:1359.CrossRefGoogle Scholar
  6. 6.
    Suhren O, Bruyen GW, Tuynman JA. Hyperekplexia: a hereditary startle syndrome. J Neurol Sci 1966;3:577–605.CrossRefGoogle Scholar
  7. 7.
    Andermann F, Keene DL, Andermann E, Quesney LF. Startle disease or hyperekplexia: further delineation of the syndrome. Brain 1980;103:985–997.PubMedCrossRefGoogle Scholar
  8. 8.
    Gordon N. Startle disease or hyperekplexia. Dev Med Child Neurol 1993;35(11):1015–1018.PubMedCrossRefGoogle Scholar
  9. 9.
    Cioni G, Biagioni E, Bottaie P, Castellacci Am, Paolicelli PB. Hyperekplexia and stiff-baby syndrome: an identical neurological disorder? Ital J Neurol Sci 1993;14(2):145–152.PubMedCrossRefGoogle Scholar
  10. 10.
    De Groen JH, Kamphuisen HA. Periodic nocturnal myoclonus in a patient with hyperekplexia (startle disease). J Neurol Sci 1978;38(2):207–213.PubMedCrossRefGoogle Scholar
  11. 11.
    Dooley JM, Andermann F. Startle disease or hyperekplexia: adolescent onset and response to Valproate. Pediatr Neurol 1989;55(2):126–127.CrossRefGoogle Scholar
  12. 12.
    Tijssen MAJ, Vergouwe MN, van Dijk GJ. Major and minor form of hereditary hyperekplexia. Mov Dis 2002;17(4):826–830.CrossRefGoogle Scholar
  13. 13.
    Ryan SG, Dixon MJ, Nigro MA, et al. Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. Am J Hum Genet 1992a;51(6):1334–1343.PubMedGoogle Scholar
  14. 14.
    Ryan SG., Sherman SL, Terry JC, Sparkes RS, Torres MC, Mackey RW. Startle disease, or hyperekplexia: response to Clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 1992b;31(6):663–668.PubMedCrossRefGoogle Scholar
  15. 15.
    Shiang R, Ryan SG, Zhu YZ, Hahn AF, O’Connell P, Wasmuth JJ. Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurological disorder, hyperekplexia. Nat Genet 1993;5(4):351–358.PubMedCrossRefGoogle Scholar
  16. 16.
    Schorderet DF, Pescia G, Bernasconi A, Regli F. An additional family with startle disease and G1192A mutation at the a1 subunit of the inhibitory glycine receptor gene. Hum Mol Genet 1994;3:1201.PubMedCrossRefGoogle Scholar
  17. 17.
    Tijssen MA, Shiang R, van Deutekom J, et al. Molecular genetic reevaluation of the Dutch hyperekplexia family. Arch Neurol 1995;52(6):578–582.PubMedGoogle Scholar
  18. 18.
    Lynch JW, Rajendra S, Pierce KD, Handford CA, Barry PH, Schofield PR. Identification of intra-cellular and extracellular domains mediating signal transduction in the inhibitory glycine receptor chloride channel. EMBO J 1997;16(1):110–120.PubMedCrossRefGoogle Scholar
  19. 19.
    Rajendra S, Lynch JW, Pierce KD, French CR, Barry PH, Schofield PR. Mutation of an arginine residue in the human glycine receptor transforms beta-alanine and taurine from agonist into competitive antagonists. Neuron 1995;14(1):169–175.PubMedCrossRefGoogle Scholar
  20. 20.
    Shimamura M. Neural mechanisms of the startle reflex in cerebral palsy, with special reference to its relationship with spino-bulbo-spinal reflexes. In: Desmedt JE, ed. New Developments in Electromyography and Clinical Neurophysiology, Volume 3. Karger, Basel: 1995;761–766.Google Scholar
  21. 21.
    Duensing F. Schreckreflex und Schreckreaktion als hirnorganische Zeichen. Archiv für Psychiatrie und Nervenkrankheiten 1952;188:162–192.CrossRefGoogle Scholar
  22. 22.
    Shibasaki H, Kakigi R, Oda K-I, Masukawa S-I. Somatosensory and acoustic brain stem reflex myoclonus. J Neurol Neurosurg Psychiatry 1988;51:572–575.PubMedCrossRefGoogle Scholar
  23. 23.
    Chauvel P, Liègeois C, Chodkiewicz JP, Bancaud J, Talairach J. Startle epilepsy with infantile hemiplegia: the physiopathological data leading to surgical therapy. Abstracts of the 15th Epilepsy International Symposium 1983; 180.Google Scholar
  24. 24.
    Bancaud J, Talairach J, Bonis A. Physiopathogénie des épilepsies-sursaut: (à propos d’une épilepsie de l’aire motrice supplémentaire). Revue Neurologique 1967;117:441–453.PubMedGoogle Scholar
  25. 25.
    Bancaud J, Talairach J, Lamarche M., Bonis A, Trottier S. Hypothèses neuro-physiopathologiques sur l’épilepsie-sursaut chez l’homme. Revue Neurologique 1975;131:559–571.Google Scholar
  26. 26.
    Aguglia U, Tinuper P, Gastaut H. Startle-induced epileptic seizures. Epilepsia 1984;25:712–720.PubMedCrossRefGoogle Scholar
  27. 27.
    Gimenez-Roldan S, Martin M. Effectiveness of clonazepam in startle-induced seizures. Epilepsia 1979;20:555–561.PubMedCrossRefGoogle Scholar
  28. 28.
    Beard GM. Remarks on “Jumpers“ of Maine. The Popular Science Monthly 1878;5:526.Google Scholar
  29. 29.
    Stevens II. “Jumping Frenchmen of Maine“. Archives of Neurology, Chicago 1965;12:311–314.Google Scholar
  30. 30.
    Saint-Hilaire MH, Saint-Hilaire JM, Granger L. Jumping Frenchmen of Maine. Neurology 1986;36:1269–1271.PubMedGoogle Scholar
  31. 31.
    Rabinovitch R. An exaggerated startle reflex resembling a kicking horse. Can Med Assoc J 1965;93:130.PubMedGoogle Scholar
  32. 32.
    Hammond W. Miryachit: a newly described disease of the nervous system, and its analogues. New York Med J 1884;39:191–192.Google Scholar
  33. 33.
    Andermann F, Andermann E. Startle disorders of man: hyperekplexia, jumping and startle epilepsy. Brain Dev 1988;10:213–222.PubMedGoogle Scholar
  34. 34.
    Simons RC. The resolution of the Latah paradox. J Nerv Ment Dis 1980;168(4):195–206.PubMedGoogle Scholar
  35. 35.
    Tanner CM, Chamberland J. Latah in Jakarta, Indonesia. Mov Disord 2001;16(3):526–529.PubMedCrossRefGoogle Scholar
  36. 36.
    Uchimura Y. Imu, a psychoreactive manifestation in Ainu women. Nervenarzt 1956;27(12):535–540.PubMedGoogle Scholar

Copyright information

© Humana Press Inc. 2005

Authors and Affiliations

  • Frederick Andermann
    • 1
  • Eva Andermann
    • 1
  1. 1.Montreal Neurological Hospital and InstituteMontrealCanada

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