Journal of Neurology

, Volume 247, Issue 6, pp 447–454

Familial Kufs' disease presenting as a progressive myoclonic epilepsy

  • B. Sadzot
  • M. Reznik
  • J.E. Arrese-Estrada
  • G. Franck
Original communication

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 epilepsy Kufs' disease 

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Copyright information

© Steinkopff Verlag 2000

Authors and Affiliations

  • B. Sadzot
    • 1
  • M. Reznik
    • 2
  • J.E. Arrese-Estrada
    • 2
  • G. Franck
    • 1
  1. 1.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)BE
  2. 2.Department of Neuropathology, University Hospital Centre (CHU)(, 4000 Liège-Sart Tilman, BelgiumBE

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