Article
Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like syndrome.
Annals of the New York Academy of Sciences - 1 Jan 2000
Ghetti B, Murrell J R, Zolo P, Spillantini M G, Goedert M
Abstract excerpt
We describe the clinical and pathologic phenotypes of the G389R mutation in exon 13 of the Tau gene. Progressive aphasia and memory disturbance are the initial signs and begin in the fourth or fifth decade of life, followed by apathy, indifference, hyperphagia, rigidity, pyramidal signs and dementia. Death occurs after two to five years. Magnetic resonance imaging and neuropathologic studies show frontal and...
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