The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past

In 1975, we presented the results of a study on a family with a constellati on of features that included a chronic spinocerebellar syndrome, neuropatho logically proven Leigh syndrome, and sudden death in infancy or childhood a ffecting several members over three generations. Inheritance was thought to be autosomal dominant. Twenty years later, we reinterpreted the inheritanc e pattern as maternal. Mitochondrial DNA (mtDNA) extracted from paraffin-em bedded brain samples from the proband revealed the A8344G myoclonic epileps y and ragged-red fiber (MERRF) mutation as the molecular basis for this mul tifaceted neurological syndrome. This re-evaluation of archival material is an instructive example of "medical archeopathology."