Article
Leber's hereditary optic neuropathy with the 11 778 mtDNA mutation and white matter disease resembling multiple sclerosis: clinical, MRI and MRS findings.
Journal of the neurological sciences - 1 Feb 1996
Jansen P H, van der Knaap M S, de Coo I F
Abstract excerpt
A mother and her son are reported who suffer from Leber's hereditary optic neuropathy (LHON) with the 11778 mtDNA mutation. In both subjects additional clinical and paraclinical evidence of a cerebral demyelinating disease was found. This combination has been reported incidentally in females, rarely in males. Magnetic resonance imaging and proton spectroscopy findings are reported. These findings are compatible...
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