No abstract

We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene. The patients presented with personality changes followed by impaired cognition and memory as well as disorientation, but minimal Parkinsonism. Imaging studies showed fronto-temporal atrophy with ventricular dilatation more on the left, and postmortem examination of the brain revealed numerous neurofibrillary tangles (NFTs) with an unusual morphology and distribution. Silver-stained sections showed ring-shaped NFTs partially surrounding the nucleus that were most prominent in frontal, temporal, insular and postcentral cortices, as well as in dentate gyrus. Cortical NFTs were restricted primarily to layer II, and were composed of straight tubules. Numerous glial cells containing coiled bodies and abundant neuropil threads were detected in cerebral white matter, hippocampus, basal ganglia, diencephalon and brain stem, but no senile plaques or other diagnostic lesions were seen. Both the glial and neuronal tangles were stained by antibodies to phosphorylation-independent and phosphorylation-dependent epitopes in tau. Thus, this novel mutation causes a distinct familial tauopathy.

No abstract

No abstract

The aim of this study was to investigate the possible mechanism of the regulation of plasma adenosine concentration [ADO] in normal pregnancy. We measured the activities of circulating enzymes that are involved in the production and metabolism of adenosine, and plasma [ADO] in nonpregnant (n = 14) and normal pregnant women (n = 14) in the third trimester. In pregnant women, the activity of plasma 5′-nucleotidase and plasma [ADO] were significantly elevated and plasma adenosine deaminase activity was significantly reduced. Enzymatic activities of both plasma enzymes appear to be changed in a way that would favor increased adenosine concentrations.