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Klinefelter syndrome and neurological disease

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Summary

Six patients with Klinefelter syndrome (47,XXY) and different neurological disease are described. Essential tremor has been reported repeatedly but its significance deserves further studies. The prevalence of epilepsy with the Klinefelter syndrome is higher in comparison with the normal population, but it is not greater than expected in the population of a mental hospital. Therefore we suggest that the neurological symptoms with the Klinefelter syndrome should basically be regarded as coincidental findings not related to the chromosome abnormality.

Zusammenfassung

Es werden 6 Fälle von Klinefelter-Syndrom (47,XXY) mit unterschiedlicher neurologischer Symptomatik beschrieben. Auffallend ist zwar die wiederholte Beschreibung eines essentiellen Tremors, dessen Signifikanz aber weiterer Untersuchungen bedarf. Die Epilepsiehäufigkeit bei Klinefelter-Syndrom ist aufgrund der Literatur wohl etwas höher als in der Durchschnittsbevölkerung, sie ist aber nicht größer als in Kollektiven von psychiatrischen Kliniken. Wir glauben daher, daß bei diesem Syndrom neurologische Störungen grundsätzlich nicht auf die Chromosomenaberration zurückgeführt, sondern als unabhängig gewertet und untersucht werden sollten.

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References

  1. Baughman, F. A., Higgins, J. V., Mann, J. D.: Sex chromosome anomalies and essential tremor. Neurology 23, 623–625 (1973)

    Google Scholar 

  2. Becker, K. L., Hoffman, D. L., Albert, A., Underdahl, L. O., Mason, H. L.: Klinefelter's Syndrome. Arch. Intern. Med. 118, 314–321 (1966)

    Google Scholar 

  3. Becker, P. E.: Recessive myotonia and Klinefelter syndrome. In: Myotonia congenita and syndromes associated with myotonia. Topics in Human Genetics, P. E. Becker, W. Lenz, F. Vogel, G. G. Wendt, eds., Vol. III, pp. 79–81. Stuttgart: Thieme 1977

    Google Scholar 

  4. Benezech, M., Noël, B.: Neurological disorders in 47,XYY men. Lancet 1975 II, 617

    Google Scholar 

  5. Daly, R. F., Matthews, Ch. G.: Impaired motor function in XYY males. Neurology 24, 655–658 (1974)

    Google Scholar 

  6. Dumermuth, G.: EEG-Untersuchungen beim jugendlichen Klinefelter Syndrom. Helv. Paed. Acta 16, 702–710 (1961)

    Google Scholar 

  7. Evans, H. J.: Chromosome anomalies among livebirths. J. Med. Genet. 14, 309–312 (1977)

    Google Scholar 

  8. Fiol, M. E., Dali, R. F., Osborne, R. H.: Dystrophia myotonica in a 47,XXY male. Neurology 25, 472–476 (1975)

    Google Scholar 

  9. Freitag, V., Schulz, A.: Trismus resulting from central nervous system lesion. J. Maxillofac. Surg. 4, 217–219 (1976)

    Google Scholar 

  10. Gariépy, G., Matte, R., Oliva, L.: La dysplasie olfactogénitale (Syndrome de Kallmann). L'union Médicale Du Canada 103, 1396–1400 (1974)

    Google Scholar 

  11. Grumbach, M. M., Blanc, W. A., Engel, E. T.: Sex chromatin pattern in seminiferous tubule dysgenesis and other testicular disorders; relationship to true hermaphroditism and to Klinefelter's syndrome. J. clin. Endocr. 17, 703–736 (1957)

    Google Scholar 

  12. Hambert, G., Frey, T. S.: The electroencephalogram in the Klinefelter syndrome. Acta psychiatr. Scand. 40, 28–35 (1964)

    Google Scholar 

  13. Hambert, F.: Males with positive sex chromatin. Gothenburg: Akkdamiförlaget Gumperts 1966

    Google Scholar 

  14. Hecht, A., Ruskin, H.: Seminiferous tubule dysgenesis (Klinefelter's syndrome) associated with familial cerebellar ataxia. J. Clin. Endocrinol. Metab. 20, 1184–1190 (1960)

    Google Scholar 

  15. Howell, D. A., Mattews, W. B.: Cerebellar ataxia and hypogonadism. In: Handbook of clinical neurology. System disorders and atrophies part I, P. J. Winken, G. W. Bruyn, eds., Vol. 21, pp. 467–476. Amsterdam: North-Holland Publishing Compagny 1975

    Google Scholar 

  16. Howell, R.: Hypostatic ulceration and Klinefelter's syndrome. Brit. Med. J. 1978 II, 95–96

    Google Scholar 

  17. Indemini, M., Ammann, F.: Hérédo-dégénérescence spinocérébelleuse (HDSC) associé au syndrome de Klinefelter. J. Génét. hum. 10, 297–325 (1963)

    Google Scholar 

  18. Lundberg, P. O.: Hereditary myopathy, oligophrenic, cataract, skeletal abnormalities and hypergonadotropic hypogonadism. Europ. Neurol. 10, 261–280 (1973)

    Google Scholar 

  19. Matthews, W. B., Rundle, A. T.: Familial cerebellar ataxia and hypogonadism. Brain 87, 463–468 (1964)

    Google Scholar 

  20. Mosier, H. D., Scott, L. W., Dingman, H. F.: Sexually deviant behavior in Klinefelter's syndrome. J. Pediat. 57, 483–497 (1960)

    Google Scholar 

  21. Murken, J. D.: The XYY-syndrome and Klinefelter's syndrome. In: Topics in Human Genetics, P. E. Becker, W. Lenz, F. Vogel, G. G. Wendt, eds., Vol. II, p. 58. Stuttgart: Thieme 1973

    Google Scholar 

  22. Neuhäuser, G., Opitz, J.: Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. Clin. Genet. 7, 426–434 (1975)

    Google Scholar 

  23. Nielsen, J.: Klinefelter's syndrome and the XYY-syndrome. Acta Psychiatr. Scand. 45, Suppl. 209 (1969)

    Google Scholar 

  24. Nielsen, J., Pedersen, E.: Electro-encephalographic findings in patients with Klinefelter's syndrome and the XYY syndrome. Acta Neurol. Scand. 45, 87–94 (1969)

    Google Scholar 

  25. Nielsen, J.: Anomalien der Geschlechtschromosomen bei Erwachsenen. Nervenarzt 48, 517–527 (1977)

    Google Scholar 

  26. Pasqualini, R. Q., Vidal, G., Bur, G. E.: Psychopathology of Klinefelter's syndrome. Lancet 1957 II, 164–167

    Google Scholar 

  27. Rimoin, D., Schimke, R. N.: Kallmann syndrome. In: Genetic disorders of the endocrine glands, pp. 26–27. Saint Louis: Mosby 1971

    Google Scholar 

  28. Rohde, R. A.: Chromatin-positive Klinefelter's syndrome. Clinical and cytogenetic studies. J. Chronic. Dis. 16, 1139–1149 (1963)

    Google Scholar 

  29. Scouras, J., Cuendet, J. F.: Atrophie du nerf optique et syndrome de Klinefelter. Ann. Oculist. (Paris) 206, 115–120 (1973)

    Google Scholar 

  30. Smith, D. W.: XXY syndrome, Klinefelter syndrome. In: Recognizable patterns of human malformation, second edition, p. 38. Philadelphia: Saunders 1976

    Google Scholar 

  31. Sparkes, R. S., Samec, L., Kaplan, S. A., Coulson, W. F.: Concurrence of myotonic dystrophy and XXY Klinefelter syndrome. Clin. Gen. 4, 264–269 (1973)

    Google Scholar 

  32. Teter, J., Saper, I., Janczweski, Z., Nadworny, J.: Zaburzenia rozwoju cielesno-plciowego u mezczyn w przypadkach miotoni wrodzoney i distrofii miotoniczney. Endokrynologia Polska 11, 1–13 (1960) (quoted by Becker, 1977)

    Google Scholar 

  33. Volpe, R., Metzler, W. S., Johnson, M. W.: Familial hypogonadotrophic eunuchoidism with cerebellar ataxia. J. clin. Endocr. 23, 107–115 (1963)

    Google Scholar 

  34. Wollacott, S., Pearce, J.: A myotonic syndrome associated with Klinefelter's syndrome. J. Med. Gen. 4, 229–301 (1967)

    Google Scholar 

  35. Zuppinger, K., Engel, E., Forbes, A. P., Mentooth, L., Claffey, J.: Klinefelter syndrome, a clinical and cytogenetic study in 24 cases. Acta endocrinol. 54, Suppl. 113, pp. 5–48 (1967)

    Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, University Hospital, CH-8091, Zürich, Switzerland

    E. Boltshauser & M. Meyer

  2. Department of Pediatrics, University Hospital, CH-1011, Lausanne, Switzerland

    T. Deonna

Authors
  1. E. Boltshauser
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  2. M. Meyer
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  3. T. Deonna
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Boltshauser, E., Meyer, M. & Deonna, T. Klinefelter syndrome and neurological disease. J. Neurol. 219, 253–259 (1978). https://doi.org/10.1007/BF00312978

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  • DOI: https://doi.org/10.1007/BF00312978

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