Article
Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.
Journal of neuropathology and experimental neurology - 1 Dec 1999
Murrell J R, Spillantini M G, Zolo P, Guazzelli M, Smith M J, Hasegawa M, Redi F, Crowther R A, Pietrini P, Ghetti B, Goedert M
Abstract excerpt
Exonic and intronic mutations in Tau cause familial neurodegenerative syndromes characterized by frontotemporal dementia and dysfunction of multiple cortical and subcortical circuits. Here we describe a G389R mutation in exon 13 of Tau. When 38 years old, the proband presented with progressive aphasia and memory disturbance, followed by apathy, indifference, and hyperphagia. Repeated magnetic resonance imaging...
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