[Neuropathological study of a case of progressive familial myoclonic epilepsy (author's transl)]

Fm Ferro, Salvatore Mazza, C. D'Angelo

Risultato della ricerca: Contributo in rivistaArticolo in rivista

Abstract

We previously reported (Europ, Neurol., 3, 347-364, 1970) on two clinical observations of progressive myoclonus epilepsy in the same family. Now, we complete the clinical study showing the neuropathological findings concerning one of the two patients who died at the age of twenty. Degenerative neuronal alterations were found involving the olivo-cerebello-rubral system and, in a minor degree, the brain stem and thalamic structures. No Lafora bodies were found. These pathological features make it possible to suggest a differentiation from a first group of progressive myoclonus epilepsy (Unverricht-Lundborg) and another group (with epileptic manifestations) of dyssynergia cerebellaris myoclonica (Ramsay Hunt). We agree with the suggestion of other authors that it is difficult to establish precise differentiations between these groups at neuropathological level. We think however that the distinction is still possible on the basis of the clinical picture. Our observations cupport the hypothesis that our patient is an "abiotrophic" case of Unverricth-Lundborg syndrome, as we previously had suggested on clinical and especially neurophysiological findings.
Titolo tradotto del contributo[Autom. eng. transl.] [Neuropathological study of a case of progressive familial myoclonic epilepsy (author's transl)]
Lingua originaleItalian
pagine (da-a)127-134
Numero di pagine8
RivistaRIVISTA DI PATOLOGIA NERVOSA E MENTALE
Volume96
Stato di pubblicazionePubblicato - 1975
Pubblicato esternamente

Keywords

  • Adult
  • Cerebellar Nuclei
  • Epilepsy
  • Humans
  • Male
  • Myoclonus
  • Thalamus

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