Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation)

Zoe Arvanitakis, Robert J. Witte, Dennis W. Dickson, Yoshio Tsuboi, Ryan J. Uitti, Jerzy Slowinski, Michael L. Hutton, Siong Chi Lin, Bradley F. Boeve, William P. Cheshire, Robert A. Pooley, Julie Liss, John N. Caviness, Audrey J. Strongosky, Zbigniew K. Wszolek

    Research output: Contribution to journalArticlepeer-review

    49 Scopus citations


    The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation. Five affected subjects, one at-risk who later became symptomatic, and one at-risk asymptomatic mutation carrier, had abnormal 18fluorodeoxyglucose PET demonstrating asymmetric temporal lobe hypometabolism. All except the asymptomatic mutation carrier had abnormal brain MRI. Parkinsonism, myoclonus, anosmia, insomnia, speech, and autonomic dysfunction were identified. Autopsy of six affected subjects showed frontotemporal degeneration with extensive tauopathy. Further studies of FTDP-17 patients are needed to replicate these findings.

    Original languageEnglish (US)
    Pages (from-to)230-239
    Number of pages10
    JournalParkinsonism and Related Disorders
    Issue number4
    StatePublished - May 2007


    • Biomarker
    • Clinical-pathologic
    • Dementia
    • FTDP-17
    • Genetics
    • Neurodegeneration
    • Neuroimaging
    • Parkinsonism
    • Positron emission tomography
    • Tauopathy

    ASJC Scopus subject areas

    • Neurology
    • Geriatrics and Gerontology
    • Clinical Neurology


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