NEUROLOGICAL DISORDERS IN MEMBERS OF FAMILIES WITH LEBERS HEREDITARY OPTIC NEUROPATHY (LHON) CAUSED BY DIFFERENT MITOCHONDRIAL MUTATIONS

Neurological abnormalities have been occasionally associated with Lebe r's hereditary optic neuropathy (LHON). We describe four patients with spastic dystonia from two of our 35 LKON families. Magnetic resonance imaging revealed signal alterations of globus pallidus, putamen, inte rnal capsula, and substantia nigra. Neuropathological findings in one of the patients with dystonia are described. Each of the dystonia fami lies carries a different mtDNA mutation; one at np 3460 and one at np 11778 Periventricular multiple sclerosis-like white matter lesions wer e observed in one individual from a third family with the mtDNA 3460 m utation. Neurological disorders are probably underestimated in associa tion with LHON.