Sense and sensitivity of novel criteria for frontotemporal dementia.

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a rando-mized, placebo-controlled trial. et al. A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy. Brain (this issue) 2011. Koilkonda RD, Guy J. Leber's hereditary optic neuropathy – gene therapy: from benchtop to bedside. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? et al. Prophylaxis for second eye involvement in Leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.Wagemakers EM. Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. Tamaki C, et al. Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. Harding AE. The clinical features of Leber's hereditary optic neur-opathy defined by the presence of a pathogenic mitochondrial DNA mutation. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. The story goes that when Marco Polo first saw a rhinoceros on Java, he called it a unicorn. As a meticulous observer, he hastened to tell us that these unicorns appeared rather strange (Eco, 2000). Diagnostic categories in medicine guide our attention to discriminating nosological features and prevent us from misidentifying rare disease entities as more familiar diseases they may resemble. Interest in frontotemporal dementia (FTD) was rekindled in the late 1980s when patterns of hypoperfusion and hypometabolism distinct from those seen in functional images of Alzheimer's disease were noted (Neary et al., 1987, 1988). Clinicopathological series collected in Lund and Manchester and international conferences on FTD in Lund led to the Lund–Manchester criteria for frontotemporal lobar degeneration (FTLD: Brun et al., 1994; Neary et al., 1998) suggesting a common denominator for three different phenotypical presentations: FTD, in which behavioural and personality changes predominate; progressive non-fluent aphasia; and semantic dementia. Other authors have since proposed restricting the term FTLD to neuropathologically confirmed disease (Josephs et al., 2011). The clinical neurological examination in FTD can remain essentially normal until well into the disease course. The history provided, however, often abounds with concrete examples of changes in personal and social conduct that together may be expressed as a qualitative difference in the pa-tient's personality. provided clinicians with a vocabulary that allowed these complex patterns to be encapsulated in discrete components: five core features, and an 11-item list of supportive features and …