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Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome.

In 1951, Denis Leigh first described a striking neuropathology that occured in a child who died of a neurodegenerative disease (Leigh 1951). The paper focused on the patient's distinct neuropathological abnormalities, which we now associate with Leigh disease, or Leigh syndrome (MIM 256000). Definite diagnosis of this neurodegenerative disorder still depends on the identification, either in postmortem samples or by use of neuroimaging techniques, of the characteristic neuropathology of focal, bilaterally symmetrical spongiform lesions, especially in the thalamus and brain stem regions.