Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap

Gigliola Serra, Rosa Piccinnu, Massimo Tondi, Francesco Muntoni, Massimo Zeviani, Camillo Mastropaolo

Research output: Contribution to journalArticle

Abstract

A study of mitochondrial DNA disease was carried out on 12 members belonging to three generations of a family from northern Sardinia. On the basis of the diagnostic criteria currently used in the classification of mitochondrial diseases a typical MERRF-MELAS overlap phenotype was seen in 11 patients with the mtDNA tRNA(lys) mutation at nucleotide position 8356. Clinical and instrumental investigations (EEG in particular) were made. Patients were divided into two groups: severely and mildly affected cases. The follow-up was reported. The aim of this study was to identify, through EEG, the early signs of the disease. The EEG findings recorded during the clinical evolution allowed us to recognize four degrees of cerebral involvement, and could also suggest the prognosis.

Original languageEnglish
Pages (from-to)185-191
Number of pages7
JournalBrain and Development
Volume18
Issue number3
DOIs
Publication statusPublished - May 1996

Keywords

  • EEG prognostic value
  • EEG study
  • Familial MERRF-MELAS overlap
  • mtDNA 8356 gene mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Fingerprint Dive into the research topics of 'Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap'. Together they form a unique fingerprint.

  • Cite this