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 M. Liss, John Nathaniel Caviness, Audrey J. Strongosky, Zbigniew K Wszolek

Research output: Contribution to journalArticle

38 Citations (Scopus)

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 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
Volume13
Issue number4
DOIs
StatePublished - May 2007

Fingerprint

Frontotemporal Dementia
Chromosomes, Human, Pair 17
Parkinsonian Disorders
Biomarkers
Mutation
Tauopathies
Olfaction Disorders
Myoclonus
Sleep Initiation and Maintenance Disorders
Temporal Lobe
Autopsy
Brain
Pallidopontonigral Degeneration
Clinical Studies

Keywords

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

ASJC Scopus subject areas

  • Aging
  • Clinical Neurology
  • Neurology

Cite this

Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). / Arvanitakis, Zoe; Witte, Robert J.; Dickson, Dennis W; Tsuboi, Yoshio; Uitti, Ryan J.; Slowinski, Jerzy; Hutton, Michael L.; Lin, Siong Chi; Boeve, Bradley F; Cheshire, William P.; Pooley, Robert A.; Liss, Julie M.; Caviness, John Nathaniel; Strongosky, Audrey J.; Wszolek, Zbigniew K.

In: Parkinsonism and Related Disorders, Vol. 13, No. 4, 05.2007, p. 230-239.

Research output: Contribution to journalArticle

Arvanitakis, Z, Witte, RJ, Dickson, DW, Tsuboi, Y, Uitti, RJ, Slowinski, J, Hutton, ML, Lin, SC, Boeve, BF, Cheshire, WP, Pooley, RA, Liss, JM, Caviness, JN, Strongosky, AJ & Wszolek, ZK 2007, 'Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation)', Parkinsonism and Related Disorders, vol. 13, no. 4, pp. 230-239. https://doi.org/10.1016/j.parkreldis.2006.10.007
Arvanitakis, Zoe ; Witte, Robert J. ; Dickson, Dennis W ; Tsuboi, Yoshio ; Uitti, Ryan J. ; Slowinski, Jerzy ; Hutton, Michael L. ; Lin, Siong Chi ; Boeve, Bradley F ; Cheshire, William P. ; Pooley, Robert A. ; Liss, Julie M. ; Caviness, John Nathaniel ; Strongosky, Audrey J. ; Wszolek, Zbigniew K. / Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). In: Parkinsonism and Related Disorders. 2007 ; Vol. 13, No. 4. pp. 230-239.
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