Progressive myoclonus epilepsy: an atypical case of ceroid-lipofuscinosis

C. Marini, A. Tempestini, A. Cerullo, A. Rosati, P. Avoni, J. F. Pellissier, P. Montagna, P. Tinuper

Research output: Contribution to journalArticle

Abstract

Progressive myoclonus epilepsies affect any age. Recently genetic and neuropathological findings have added new insights in diagnosis. However, atypical forms are frequent. We describe the case of a 53 year old woman who began having increasing myoclonias at the age of 23 years; cerebellar signs and mental deterioration were absent, fundus is normal. EEC shows normal background activity, diffuse spike and wave bursts correlated or not with myoclonias. Acoustic, tactile and somatosensory stimuli provoked massive myoclonias with frequent falling. Skin biopsy showed curvilinear and fingerprint inclusions. Neuropathological findings suggest a ceroid-lipofuscinosis. However, the clinical picture is not typical for any distinctive form of this disease because of a lack of progressive deterioration and ataxia and a lack of slowing background activity on EEG. Ceroid-lipofuscinosis, especially in adult form, are a heterogeneous group of diseases and atypical forms may be collected to identify distinctive subgroups.

Original languageEnglish
Pages (from-to)124
Number of pages1
JournalItalian Journal of Neurological Sciences
Volume18
Issue number4
Publication statusPublished - 1997

Fingerprint

Ceroid
Progressive Myoclonic Epilepsy
Accidental Falls
Touch
Dermatoglyphics
European Union
Ataxia
Acoustics
Electroencephalography
Biopsy
Skin

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Marini, C., Tempestini, A., Cerullo, A., Rosati, A., Avoni, P., Pellissier, J. F., ... Tinuper, P. (1997). Progressive myoclonus epilepsy: an atypical case of ceroid-lipofuscinosis. Italian Journal of Neurological Sciences, 18(4), 124.

Progressive myoclonus epilepsy : an atypical case of ceroid-lipofuscinosis. / Marini, C.; Tempestini, A.; Cerullo, A.; Rosati, A.; Avoni, P.; Pellissier, J. F.; Montagna, P.; Tinuper, P.

In: Italian Journal of Neurological Sciences, Vol. 18, No. 4, 1997, p. 124.

Research output: Contribution to journalArticle

Marini, C, Tempestini, A, Cerullo, A, Rosati, A, Avoni, P, Pellissier, JF, Montagna, P & Tinuper, P 1997, 'Progressive myoclonus epilepsy: an atypical case of ceroid-lipofuscinosis', Italian Journal of Neurological Sciences, vol. 18, no. 4, pp. 124.
Marini C, Tempestini A, Cerullo A, Rosati A, Avoni P, Pellissier JF et al. Progressive myoclonus epilepsy: an atypical case of ceroid-lipofuscinosis. Italian Journal of Neurological Sciences. 1997;18(4):124.
Marini, C. ; Tempestini, A. ; Cerullo, A. ; Rosati, A. ; Avoni, P. ; Pellissier, J. F. ; Montagna, P. ; Tinuper, P. / Progressive myoclonus epilepsy : an atypical case of ceroid-lipofuscinosis. In: Italian Journal of Neurological Sciences. 1997 ; Vol. 18, No. 4. pp. 124.
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