NEUROMYELITIS-OPTICA (DEVICS SYNDROME) - NO ASSOCIATION WITH THE PRIMARY MITOCHONDRIAL-DNA MUTATIONS FOUND IN LEBER HEREDITARY OPTIC NEUROPATHY

Devic's neuromyelitis optica is a rare syndrome characterised by the c ombination of acute or subacute optic neuritis and transverse myelitis , in some cases considered to be a variant of multiple sclerosis. Muta tions of mitochondrial DNA (mtDNA) associated with Leber hereditary op tic neuropathy (LHON) have been identified in some patients with multi ple sclerosis in whom optic neuritis is a prominent early feature. Usi ng restriction enzyme digestion of mtDNA products amplified by the pol ymerase chain reaction, the primary LHON mtDNA mutations at positions 3460 bp, 11 778 bp, and 14 484 bp have been excluded in four women wit h Devic's neuromyelitis optica. A mutation at 4160 bp associated in so me LHON families with more widespread neurological disease was also no t detected. It is concluded that the primary mtDNA mutations currently associated with LHON are not responsible for the prominence of optic nerve disease in Devic's neuromyelitis optica.