The tau N279K mutation was identified in four separately ascertained families in the United States, Japan, and France and in another recently discovered affected individual in Japan. The authors analyzed genealogical and clinical records and DNA samples. Average age at onset was 43 years; survival time was 7 years. All families exhibited similar clinical features, with parkinsonism, dementia, and supranuclear palsy uniformly seen. A founder effect indicated by a shared disease haplotype was seen only in two Japanese families. The N279K mutation can develop independently in different parts of the world.
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Prominent loss of striatal dopamine transporter binding in frontotemporal lobar degeneration with the MAPT N279K mutation present as early as at prodromal stage without parkinsonism.
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Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Our research found out, from I-FP-CIT SPECT scans of three familial frontotemporal dementia (fFTD) individuals with MAPT N279K mutation and similar autopsy findings of frontotemporal degeneration with severe neuronal loss in the substantia nigra, that prominent decrease of dopamine transporter binding (z-score < -5.0) was present at prodromal fFTD without parkinsonism.
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May 2024
Department of Pathology & Cell Biology, Columbia University, New York, NY 10032, USA; Taub Institute for Research on Alzheimer's Disease & the Aging Brain, Columbia University, New York, NY 10032, USA. Electronic address:
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Mol Neurodegener
May 2023
Memory and Aging Center, Department of Neurology, University of California, San Francisco, CA, USA.
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