Alternative titles; symbols
Kalimo et al. (1979) described adult Leigh disease in a mother and 2 sons. The disease started during the second decade with bilateral optic atrophy, central scotoma, and colorblindness. This was followed by a quiescent period until about age 50 years in the mother and ages 40 and 30 in the sons, when ataxia, spastic paresis, clonic jerks, grand mal seizures, psychologic lability, and slight dementia appeared. Permanent hospitalization was required after a few years. The mother died at age 63 and the sons at age 46 and 43, respectively. Neuropathologic examination showed lesions typical of Leigh disease. The same family had been reported by Enghoff (1963). No other familial report was found. The fact that this might at earlier stages be called familial optic atrophy is noteworthy. Mitochondrial inheritance might be considered.
Enghoff, E. Ueber eine an Leber's opticusatrophie erinnernde heredodegenerative Krankheit. Acta Med. Scand. 173: 83-90, 1963.
Kalimo, H., Lundberg, P. O., Olsson, Y. Familial subacute necrotizing encephalomyelopathy of the adult form (adult Leigh syndrome). Ann. Neurol. 6: 200-206, 1979. [PubMed: 230781] [Full Text: https://doi.org/10.1002/ana.410060304]