LEBERS PLUS - NEUROLOGICAL ABNORMALITIES IN PATIENTS WITH LEBERS HEREDITARY OPTIC NEUROPATHY

Previous studies suggest that Leber's hereditary optic neuropathy (LHO N) may be a systemic disorder with manifestations in organs other than the optic nerves. To evaluate nervous system involvement 38 men and e ight women with LHON were re-examined. The patients were divided into three groups according to mtDNA analysis - namely, patients with the 1 1778 or with the 3460 mutation and patients without these primary muta tions. Fifty nine per cent of patients had neurological abnormalities but there was no significant difference between the three groups. Move ment disorders were the most common finding; nine patients had constan t postural tremor, one chronic motor tie disorder, and one parkinsonis m with dystonia. Four patients had peripheral neuropathy with no other evident cause, Two patients had a multiple sclerosis-like syndrome; i n both patients MRI showed changes in the - periventricular white matt er. Thoracic kyphosis occurred in seven patients, five of whom had the 3460 mutation. In one patient the 3460 mutation was associated with i nvolvement of the brain stem. It is suggested that various movement di sorders, multiple sclerosis-like illness, and deformities of the verte bral column may associate pathogenetically with LHON.