Although patients with Prune syndrome manifest abnormal neurology from birth, the neurological impairment, microcephaly and cortical involvement appears to be progressive and there are some striking similarities in the neurodegenerative pattern and in white matter abnormalities seen on neuroimaging of these patients and that of patients harbouring recessive TBCD mutations and also some overlapping ophthalmological features such as the optic atrophy documented in the Italian family. This evidence concerns the gene TBCD and Leber hereditary optic neuropathy.