Leigh disease
Last reviewed 01/2018
Leigh disease is a maternally inherited syndrome which is characterised by:
- subacute necrotizing encephalomyelopathy
- mental retardation
- ataxia
- neurogenic weakness
- retinitis pigmentosa
Leigh disease is a mitochondrial disease caused by a point mutation in the ATPase 6 gene at position 8993. Mutations at this point also cause the NARP syndrome.
mental retardation (term that has been replaced by intellectual developmental disorder)