New therapeutic perspectives for demyelinating retrobulbar optic neuritis.

In patients with demyelinating retrobulbar optic neuritis (RON), a spontaneous or corticosteroid-induced improvement is generally observed within the first month, but this is clinically insignificant in 5%-7% of patients. We report the case histories of four patients who were considered to be "non-responders" to corticosteroids because their visus remained unchanged or had improved by only 1/10 after one month from intravenous corticoid therapy begun 2-7 days after disease onset, and who were therefore subsequently administered high intravenous doses of immunoglobulin. Three of these patients completely recovered in a period of 3-9 months; the fourth showed only a partial improvement, but this was consolidated after long-term continuation of the same therapy. These cases suggest the possible efficacy of early administration of intravenous immunoglobulin in RON patients who fail to respond to cortisone therapy. As recently demonstrated in animal models, it can be hypothesised that the result is due to immuno-mediated mechanisms of action that reduce autoimmune responses in the short- and medium-term, and in the long-term favour remyelination.

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

Autosomal dominant progressive external ophthalmoplegia (adPEO) is a disorder characterized by ptosis, progressive weakness of the external eye muscles, and general muscle weakness. The patients have multiple deletions of mtDNA on Southern blots or in PCR analysis of muscle DNA and a mild deficiency of one or more respiratory-chain enzymes carrying mtDNA-encoded subunits. The pattern of inheritance indicates a nuclear gene defect predisposing to secondary mtDNA deletions. Recently, in one Finnish family, we assigned an adPEO locus to chromosome 10q 23.3-24.3 but also excluded linkage to this same locus in two Italian adPEO families with a phenotype closely resembling the Finnish one. We applied a random mapping approach to informative non-10q-linked Italian families to assign the second locus for adPEO and found strong evidence for linkage on chromosome 3p 14.1-21.2 in three Italian families, with a maximum two-point lod score of 4.62 at a recombination fraction of .0. However, in three additional families, linkage to the same chromosomal region was clearly absent, indicating further genetic complexity of the adPEO trait.

Lacunar infarcts: a personal series of 92 consecutive cases.

A series of 92 patients with lacunar infarcts identified by CT brain scan are described. Risk factors for cerebrovascular disease, clinical aspects and outcome are analyzed. Our cases show unusual clinical syndromes in a remarkable number of subjects, indicating the usefulness of performing a CT brain scan.