Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.

TitleProgressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases.
Publication TypeJournal Article
Year of Publication1993
AuthorsFranceschetti, S, Antozzi, C, Binelli, S, Carrara, F, Nardocci, N, Zeviani, M, Avanzini, G
JournalActa Neurol Scand
Volume87
Issue3
Pagination219-23
Date Published1993 Mar
ISSN0001-6314
KeywordsAdolescent, Adult, Biopsy, Needle, Child, Diagnosis, Differential, DNA, Mitochondrial, Electroencephalography, Electromyography, Epilepsies, Myoclonic, Female, Humans, Male, MERRF Syndrome, Muscles, Myoclonic Cerebellar Dyssynergia, Neurologic Examination, Point Mutation, Synaptic Transmission
Abstract

Electroclinical, morphological, biochemical and molecular genetic data from 17 patients affected by progressive myoclonus epilepsies (PME) are reported. Twelve patients were characterized by prominent action myoclonus, sporadic seizures, mild ataxia, lack of dementia and persistence of normal EEG background activity; three patients showed a more rapid worsening of symptomatology, characterized by early mental impairment, massive and action myoclonus, cerebellar signs and tonic clonic seizures; in these patients EEG background activity was slow, even in early stages of the disease. In two patients, previously classified as cryptogenetic PME, a mitochondrial aetiology was recognized by the presence of ragged red fibers in muscle biopsy and by a reduction of the respiratory chains enzymes. Molecular genetical investigation of mtDNA demonstrated the reported heteroplasmic point mutation at nt 8344 of mtDNA in the two MERRF patients, while it was negative in all of the others.

DOI10.1111/j.1600-0404.1993.tb04105.x
Alternate JournalActa Neurol. Scand.
Citation Key10.1111/j.1600-0404.1993.tb04105.x
PubMed ID8386419