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

S. Franceschetti, C. Antozzi, S. Binelli, F. Carrara, N. Nardocci, M. Zeviani, G. Avanzini

Research output: Contribution to journalArticle

22 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)219-223
Number of pages5
JournalActa Neurologica Scandinavica
Volume87
Issue number3
Publication statusPublished - 1993

Fingerprint

Progressive Myoclonic Epilepsy
Molecular Biology
Myoclonus
Mitochondrial DNA
Electroencephalography
MERRF Syndrome
Seizures
Slow-Twitch Muscle Fibers
Ataxia
Electron Transport
Point Mutation
Dementia
Biopsy
Enzymes

Keywords

  • Action myoclonus
  • MERRF
  • Progressive myoclonus epilepsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

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T2 - An electroclinical, biochemical, morphological and molecular genetic study of 17 cases

AU - Franceschetti, S.

AU - Antozzi, C.

AU - Binelli, S.

AU - Carrara, F.

AU - Nardocci, N.

AU - Zeviani, M.

AU - Avanzini, G.

PY - 1993

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N2 - 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.

AB - 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.

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