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Abstract: We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA). Direct sequencing showed a novel heteroplasmic G>A substitution in position 12316 of tRNALeu(CUN) gene. This change destroys a highly conserved G–C base coupling in tRNA TψC branch. By RFLP analysis we could demonstrate different degrees of heteroplasmy in different patient''s tissues. This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNALeu(CUN) pathogenic mutation described up to date. [Copyright &y& Elsevier]

A new association of Vanishing White Matter (VWM) and premature ovarian failure (POF) was recently described as a sole entity called ovarioleukodystrophy. Seven out of eight patients reported by Fogli et al. had translation initiation factor (eIF2B) mutations, specific to the VWM. The only patient without mutations had a distinctive neurological presentation that included cognitive deterioration without motor signs and white matter abnormalities restricted to the frontal lobe. We describe here a case suggestive of ovarioleukodistrophy carrying no eIF2B mutations.