Journal article

Mitochondrial DNA-Associated Leigh Syndrome and NARP

David R Thorburn, Joyeeta Rahman, Shamima Rahman

Published : 2017

Abstract

CLINICAL CHARACTERISTICS:Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) are part of a continuum of progressive neurodegenerative disorders caused by abnormalities of mitochondrial energy generation. Leigh syndrome (or subacute necrotizing encephalomyelopathy) is characterized by onset of symptoms typically between ages three and 12 months, often following a viral infection. Decompensation (often with elevated lactate levels in blood and/or CSF) during an intercurrent illness is typically associated with psychomotor retardation or regression. Neurologic features include hypotonia, spasticity, movement disorders (incl..

View full abstract

Grants

Awarded by NLM NIH HHS