Patients presenting with thrombotic stroke of unexplained etiology and
or migraine with aura were screened for mitochondrial (mt) DNA mutati
ons associated with cytopathies given that both migraine and stroke-li
ke episodes are recognised with certain mt DNA mutations, Mutations us
ually associated with either mitochondrial encephalopathy, lactic acid
osis and stroke-like episode, myoclonic epilepsy with ragged red fibre
s, or those strongly linked to Leber's hereditary optic neuropathy (LH
ON) were not detected in patients or controls. However, increased leve
ls of two of the secondary LHON mutations were found, The T-->C mutati
on at nucleotide 4216 was more common than expected in patients aged 3
5 years or less, as was the 13708 G-->A mutation in young stroke patie
nts, This data lends support to the possibility that an accumulation o
f minor mt DNA mutations may contribute to the pathoaetiology of strok
e and migraine with aura in some young patients.