Kufs'Disease Presenting as Progressive Dementia with Late-Onset Generalized Seizures: A Clinicopathological and Electrophysiological Study
| Autor: | H Regis, A Donnet, Gosset A, J.F. Pellissier, M. Habib, J Roger, Khalil R, J. Pelletier, G Farnarier |
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| Rok vydání: | 1992 |
| Předmět: |
Adult
Wrist Joint Pediatrics medicine.medical_specialty Movement Neurological examination Late onset Progressive myoclonus epilepsy Epilepsy Neuronal Ceroid-Lipofuscinoses medicine Humans Dementia Kufs disease Neurologic Examination medicine.diagnostic_test Brain Electroencephalography medicine.disease Frontal Lobe Cerebellar Nuclei Neurology Myoclonic epilepsy Female Neurology (clinical) medicine.symptom Psychology Neuroscience Myoclonus Photic Stimulation |
| Zdroj: | Epilepsia. 33:65-74 |
| ISSN: | 1528-1167 0013-9580 |
| DOI: | 10.1111/j.1528-1157.1992.tb02284.x |
| Popis: | A 32-year-old woman presented with increasing motor difficulties and memory disturbances. Neurological examination only showed mild cerebellar and extrapyramidal symptoms, whereas neuropsychological evaluation disclosed severe cognitive changes consistent with dementia. Her motor and mental status progressively deteriorated until death, which occurred 5 years after the first admission. One year before death, while she was almost bedridden, symptoms of myoclonic epilepsy first appeared, with frequent generalized seizures and generalized myoclonus, occurring especially upon sensory stimulation or passive joint movements. Pathological examination showed neuronal inclusions typical of Kufs' disease. This case, with primary progressive dementia and late-onset myoclonic epilepsy, differs from previously reported cases. Three special electrophysiological features were abnormal, "giant", evoked potentials; unusually marked photosensitivity; and seizure induction by any sensory stimulation. |
| Databáze: | OpenAIRE |
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