Journal of Neurology

, Volume 247, Issue 6, pp 447–454

Familial Kufs' disease presenting as a progressive myoclonic epilepsy

Authors

  • B. Sadzot
    • Department of Neurology, University Hospital Centre (CHU), 4000 Liège-Sart Tilman, Belgium, E-mail: bsadzot @chu.ulg.ac.be, Tel: +32-4-3667254, Fax: +32-4-3667499)
  • M. Reznik
    • Department of Neuropathology, University Hospital Centre (CHU)(, 4000 Liège-Sart Tilman, Belgium
  • J.E. Arrese-Estrada
    • Department of Neuropathology, University Hospital Centre (CHU)(, 4000 Liège-Sart Tilman, Belgium
  • G. Franck
    • Department of Neurology, University Hospital Centre (CHU), 4000 Liège-Sart Tilman, Belgium, E-mail: bsadzot @chu.ulg.ac.be, Tel: +32-4-3667254, Fax: +32-4-3667499)
Original communication

DOI: 10.1007/s004150070174

Cite this article as:
Sadzot, B., Reznik, M., Arrese-Estrada, J. et al. J Neurol (2000) 247: 447. doi:10.1007/s004150070174

Abstract

Kufs' disease is the adult form of a group of disorders referred to as neuronal ceroid-lipofuscinosis or Batten's disease. We report here the clinical and anatomopathological features of two young brothers presenting with a progressive myoclonic epilepsy corresponding to type A of the disease according to Berkovic. The first clinical manifestations occurred before 20 years of age. Diagnosis was made in the older brother at autopsy and in the younger brother from a rectal biopsy. In addition to characteristic electron microscopic findings, enlarged neurons showed strong immunoreactivity against subunit c of mitochondrial ATP synthase which has been reported previously in only a few adult cases of neuronal ceroid-lipofuscinosis. An extensive review of the published cases underlines the rarity of this condition, particularly when onset is early.

Key words Myoclonic epilepsyKufs' disease

Copyright information

© Steinkopff Verlag 2000