Subacute Necrotizing Encephalomyelopathy Leighs Disease

Pathogenesis and Pathophysiology. At the molecular level, Leigh's disease can be caused by both mendelian (autosomal recessive nuclear coded DNA) and mtDNA defects.y , y Areas affected are primarily the basal ganglia, brain stem, and cerebellum. The cerebral cortex and retinal pigment are less involved. Pathologically, there is spongy degeneration, demyelination, gliosis, necrosis, relative sparing of neurons, and capillary proliferation. Several enzyme complexes involved in mitochondrial respiratory metabolism show defects, singly or in combination. These are in cytochrome C oxidase (COX; complex IV), NADH dehydrogenase (complex I), pyruvate dehydrogenase complex (PDHC), and pyruvate carboxylase. The most commonly reported defect is within the ATPase 6 gene at mtDNA position mt8993, a T to G or T to C mutation, resulting in severe defects of ATP production. y This is the same gene defect that causes the NARP syndrome (neuropathy, ataxia, and retinitis pigmentosa) in adults.

Epidemiology and Risk Factors. Leigh's disease is a relatively common neurometabolic disease. About one half of patients are diagnosed in the first year of life, usually


Peripheral Neuropathy Natural Treatment Options

Peripheral Neuropathy Natural Treatment Options

This guide will help millions of people understand this condition so that they can take control of their lives and make informed decisions. The ebook covers information on a vast number of different types of neuropathy. In addition, it will be a useful resource for their families, caregivers, and health care providers.

Get My Free Ebook

Post a comment