A distinct familial presenile dementia with a novel missense mutation in the tau gene - PubMed (original) (raw)

. 1999 Feb 25;10(3):497-501.

doi: 10.1097/00001756-199902250-00010.

T Tabira, P Poorkaj, G D Schellenberg, J Q Trojanowski, V M Lee, M L Schmidt, K Takahashi, T Nabika, T Matsumoto, Y Yamashita, S Yoshioka, H Ishino

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A distinct familial presenile dementia with a novel missense mutation in the tau gene

M Iijima et al. Neuroreport. 1999.

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.

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