Neuropsychological tests and functional nuclear neuroimaging provide evidence of subclinical impairment in Nasu-Hakola disease heterozygotes.

Nasu-Hakola disease is a rare, recessively inherited disease characterized by presenile dementia and bone cysts. Until now, no evidence of subclincal pathological changes in individuals heterozygous for the mutations underlying Nasu-Hakola disease has been reported. We performed a functional neuroimaging (99mTc-ECD SPECT) and neuropsychological study of healthy members of an Italian family carrying a mutation in the TREM2 gene.

Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature.

Nasu-Hakola disease (NHD, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile dementia associated with sclerosing encephalopathy. The disease has a worldwide distribution, but most patients have been reported in Finland and in Japan; in Italy there are anecdotal reports. The combination of neuropsychiatric symptoms and bone cysts is unique to this disease, which we believe to be underestimated in Italy.

Quantified EEG analysis monitoring in a novel model of general anaesthesia in rats.

The aim of this research was to evaluate the safety and reliability of an anaesthetic mixture (Equitensine: pentobarbital, chloral hydrate, dihydroxypropane, ethanol) which, unlike other 'classic' anaesthetics, such as ketamine [The Electroencephalogram in Anaesthesia, Springer, Berlin, 1984], has been demonstrated not to induce alterations in the extracellular concentrations of cerebral excitatory amino acids. Quantified EEG analysis monitoring and behavioural observation were used to quantify the degree and the time course of the changes in cerebral electrical activity, analgesia and sedation induced, in rats, by the compound under investigation. Equitensine (0.