Familial Kufs' Disease Presenting as a Progressive Myoclonic Epilepsy

[en] 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.

Disciplines :

Neurology

Author, co-author :

Sadzot, Bernard ; Université de Liège - ULiège > Département des sciences cliniques > Département des sciences cliniques

Reznik, Michel ; Université de Liège - ULiège > Services généraux (Faculté de médecine) > Relations académiques et scientifiques (Médecine)

Arrese Estrada, Jorge ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques

Franck, Georges ; Université de Liège - ULiège > Relations académiques et scientifiques (Médecine)

Language :

English

Title :

Familial Kufs' Disease Presenting as a Progressive Myoclonic Epilepsy

Publication date :

June 2000

Journal title :

Journal of Neurology

ISSN :

0340-5354

eISSN :

1432-1459

Publisher :

Dr. Dietrich Steinkopff Verlag, Germany

Volume :

247

Issue :

Pages :

447-54

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 05 March 2021

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