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 N. Caviness; Audrey J. Strongosky; Zbigniew K. Wszolek

doi:10.1016/j.parkreldis.2006.10.007

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 N. Caviness, Audrey J. Strongosky, Zbigniew K. Wszolek

Research output: Contribution to journal › Article › peer-review

45 Scopus citations

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 language	English (US)
Pages (from-to)	230-239
Number of pages	10
Journal	Parkinsonism and Related Disorders
Volume	13
Issue number	4
DOIs	https://doi.org/10.1016/j.parkreldis.2006.10.007
State	Published - May 2007

Keywords

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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10.1016/j.parkreldis.2006.10.007

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Arvanitakis, Z., Witte, R. J., Dickson, D. W., Tsuboi, Y., Uitti, R. J., Slowinski, J., Hutton, M. L., Lin, S. C., Boeve, B. F., Cheshire, W. P., Pooley, R. A., Liss, J. M., Caviness, J. N., Strongosky, A. J., & Wszolek, Z. K. (2007). Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). Parkinsonism and Related Disorders, 13(4), 230-239. https://doi.org/10.1016/j.parkreldis.2006.10.007

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

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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 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.",

keywords = "Biomarker, Clinical-pathologic, Dementia, FTDP-17, Genetics, Neurodegeneration, Neuroimaging, Parkinsonism, Positron emission tomography, Tauopathy",

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

note = "Funding Information: This study was supported by internal grants from Mayo Clinic Jacksonville (1688–99) and Mayo Clinic Scottsdale (630-99). Funding Information: Authors are indebted to the family members who participated in this study. The study was supported by the Mayo Clinic Jacksonville internal funding and, in part, by the Morris K. Udall NIH/NINDS PD Center of Excellence grant awarded to the Mayo Clinic Jacksonville. Editing, proofreading, and reference verification were provided by the Section of Scientific Publications, Mayo Clinic.",

year = "2007",

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doi = "10.1016/j.parkreldis.2006.10.007",

language = "English (US)",

volume = "13",

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journal = "Parkinsonism and Related Disorders",

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AU - Arvanitakis, Zoe

AU - Witte, Robert J.

AU - Dickson, Dennis W.

AU - Tsuboi, Yoshio

AU - Uitti, Ryan J.

AU - Slowinski, Jerzy

AU - Hutton, Michael L.

AU - Lin, Siong Chi

AU - Boeve, Bradley F.

AU - Cheshire, William P.

AU - Pooley, Robert A.

AU - Liss, Julie M.

AU - Caviness, John N.

AU - Strongosky, Audrey J.

AU - Wszolek, Zbigniew K.

N1 - Funding Information: This study was supported by internal grants from Mayo Clinic Jacksonville (1688–99) and Mayo Clinic Scottsdale (630-99). Funding Information: Authors are indebted to the family members who participated in this study. The study was supported by the Mayo Clinic Jacksonville internal funding and, in part, by the Morris K. Udall NIH/NINDS PD Center of Excellence grant awarded to the Mayo Clinic Jacksonville. Editing, proofreading, and reference verification were provided by the Section of Scientific Publications, Mayo Clinic.

PY - 2007/5

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N2 - 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.

AB - 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.

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KW - Clinical-pathologic

KW - Dementia

KW - FTDP-17

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KW - Neurodegeneration

KW - Neuroimaging

KW - Parkinsonism

KW - Positron emission tomography

KW - Tauopathy

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ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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