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 language | English |
|---|---|
| Pages (from-to) | 124 |
| Number of pages | 1 |
| Journal | Italian Journal of Neurological Sciences |
| Volume | 18 |
| Issue number | 4 |
| Publication status | Published - 1997 |
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ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Neurology
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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 journal › Article
}
TY - JOUR
T1 - Progressive myoclonus epilepsy
T2 - an atypical case of ceroid-lipofuscinosis
AU - Marini, C.
AU - Tempestini, A.
AU - Cerullo, A.
AU - Rosati, A.
AU - Avoni, P.
AU - Pellissier, J. F.
AU - Montagna, P.
AU - Tinuper, P.
PY - 1997
Y1 - 1997
N2 - 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.
AB - 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.
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M3 - Article
AN - SCOPUS:33746324575
VL - 18
SP - 124
JO - Italian Journal of Neurological Sciences
JF - Italian Journal of Neurological Sciences
SN - 0392-0461
IS - 4
ER -