title: Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation).
abstract: 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 (18)fluorodeoxyglucose 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.
authors.affiliation: Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
authors.forename: Zoe
authors.initials: Z
authors.lastname: Arvanitakis
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Witte
authors.forename: Dennis W
authors.initials: DW
authors.lastname: Dickson
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Tsuboi
authors.forename: Ryan J
authors.initials: RJ
authors.lastname: Uitti
authors.forename: Jerzy
authors.initials: J
authors.lastname: Slowinski
authors.forename: Michael L
authors.initials: ML
authors.lastname: Hutton
authors.forename: Siong-Chi
authors.initials: SC
authors.lastname: Lin
authors.forename: Bradley F
authors.initials: BF
authors.lastname: Boeve
authors.forename: William P
authors.initials: WP
authors.lastname: Cheshire
authors.forename: Robert A
authors.initials: RA
authors.lastname: Pooley
authors.forename: Julie M
authors.initials: JM
authors.lastname: Liss
authors.forename: John N
authors.initials: JN
authors.lastname: Caviness
authors.forename: Audrey J
authors.initials: AJ
authors.lastname: Strongosky
authors.forename: Zbigniew K
authors.initials: ZK
authors.lastname: Wszolek
mesh_terms: D000328:Adult; D001216:Asparagine / Q000235:genetics*; D002540:Cerebral Cortex / Q000000981:diagnostic imaging / Q000473:pathology; D002886:Chromosomes, Human, Pair 17; D003704:Dementia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D019788:Fluorodeoxyglucose F18 / Q000493:pharmacokinetics; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D049268:Positron-Emission Tomography / Q000379:methods; D016875:tau Proteins / Q000235:genetics*
chemical_list: D016875:tau Proteins; D019788:Fluorodeoxyglucose F18; D001216:Asparagine; D008239:Lysine