Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap.
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.
Serra
G
G
Institute of Child Neuropsychiatry, University of Sassari, Italy.
Piccinnu
R
R
Tondi
M
M
Muntoni
F
F
Zeviani
M
M
Mastropaolo
C
C
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007558:Italy; D017241:MELAS Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D017243:MERRF Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000502:physiology; D011237:Predictive Value of Tests; D011379:Prognosis
D004272:DNA, Mitochondrial