Leigh’s Disease

Abstract

The disease subacute necrotizing encephalomyelopathy (SNE) was first described in 1951 by Denis Leigh and therefore is also called Leigh’s disease (Leigh, 1951). This disorder, although afflicting mainly children, has many features similar to those of Wernicke’s disease. These neuropathological features were so striking as to have been noted in the first case description by Dr. Leigh. Many studies have evolved over the years describing various biochemical features of Leigh’s disease. Most recently, genetic and mitochondrial alterations in brain, blood, and tissue of SNE patients have been described. This chapter will examine results from these studies in a chronological order and try to reach some valid conclusions and note where information is lacking.