作者: W Richard Bevan-Jones , Franklin Aigbirhio , Luca Passamonti , Tim Fryer , Yong Hong
DOI: 10.1136/JNNP-2016-315106.32
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摘要: A 49 year old lady presented with behavioural variant Frontotemporal Dementia in the absence of parkinsonism, supported by neuropsychological testing and frontotemporal atrophy on Magnetic Resonance imaging. Her father had developed at 49, post mortem Tau neuropathology resembling corticobasal degeneration (tau-positive neuronal glial inclusions, ballooned abnormal achromatic neurons, loss). His mother dementia her late 409s. Genetic conformed a mutation gene MAPT, encoding microtubule associated protein tau (10+16C>T). Positron Emission Tomography imaging using novel radioligand [18F]AV-1451 showed increased binding subcortical grey matter (striatum thalamus), cortex. PET radioligands are potentially important biomarkers to detect monitor many neurodegenerative diseases. In this case, genetic proband confirmed pathology support case for as biomarker neuropathology. Further work will evaluate potential presymptomatic carriers; differentiate tauopathies from other disorders; disease progression therapy.