Familial Kufs' disease presenting as a progressive myoclonic epilepsy.

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.
AuthorsB Sadzot, M Reznik, J E Arrese-Estrada, G Franck
JournalJournal of neurology (J Neurol) Vol. 247 Issue 6 Pg. 447-54 (Jun 2000) ISSN: 0340-5354 [Print] GERMANY
PMID10929274 (Publication Type: Case Reports, Journal Article)
  • Adult
  • Age of Onset
  • Brain (pathology, physiopathology, ultrastructure)
  • Diagnosis, Differential
  • Disease Progression
  • Humans
  • Male
  • Microscopy, Electron
  • Myoclonic Epilepsies, Progressive (complications, genetics, pathology)
  • Neuronal Ceroid-Lipofuscinoses (complications, genetics, pathology)
  • Neurons (pathology, ultrastructure)
  • Treatment Outcome

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