Late onset of stroke-like episode associated with a 3256C-->T point mutation of mitochondrial DNA

Tina Dysgaard Jeppesen, Marianne Schwartz, Klaus Hansen, Else R Danielsen, Flemming Wibrand, John Vissing

Abstract

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) are usually associated with the common 3243A-->G mutation of mtDNA. Onset of stroke-like episodes usually occurs before age 30. We report a patient with late onset MELAS harboring a rare 3256C-->T mutation in the tRNA(Leu(UUR)) gene of mtDNA. The patient presented with a stroke-like episode at age 36. MRI showed a stroke-like lesion in the right parietooccipital brain region. Proton MR spectroscopy showed elevated lactate concentrations in the lesion (8.4 mmol/l), and in the mid-occipital region (2.3-3.2 mmol/l) that appeared normal on MRI. Further tests revealed evidence of a severe oxidative defect of muscle metabolism as well.

OriginalsprogEngelsk
TidsskriftJournal of the Neurological Sciences
Vol/bind214
Udgave nummer1-2
Sider (fra-til)17-20
Antal sider4
ISSN0022-510X
DOI
StatusUdgivet - 15 okt. 2003

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