Abstract
Marinesco-Sjogren syndrome is an inherited neuro-ocular disease with spinocerebellar symptoms and cataracts. The authors report three cases, two of them belonging to the same family, with unusual magnetic resonance imaging findings, consisting of atrophy of optic nerve, optic chiasm and occipital cortex. Like in other progressive ataxias, the authors are probably dealing with different neuropathological and clinical forms, some of which combining atrophy of the optic nerve and optic pathway with the basic features of cerebellar and brain stem atrophy.
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