PMID- 17196872
OWN - NLM
STAT- MEDLINE
DCOM- 20070718
LR  - 20220409
IS  - 1353-8020 (Print)
IS  - 1353-8020 (Linking)
VI  - 13
IP  - 4
DP  - 2007 May
TI  - Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau 
      mutation).
PG  - 230-9
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 (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.
FAU - Arvanitakis, Zoe
AU  - Arvanitakis Z
AD  - Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
FAU - Witte, Robert J
AU  - Witte RJ
FAU - Dickson, Dennis W
AU  - Dickson DW
FAU - Tsuboi, Yoshio
AU  - Tsuboi Y
FAU - Uitti, Ryan J
AU  - Uitti RJ
FAU - Slowinski, Jerzy
AU  - Slowinski J
FAU - Hutton, Michael L
AU  - Hutton ML
FAU - Lin, Siong-Chi
AU  - Lin SC
FAU - Boeve, Bradley F
AU  - Boeve BF
FAU - Cheshire, William P
AU  - Cheshire WP
FAU - Pooley, Robert A
AU  - Pooley RA
FAU - Liss, Julie M
AU  - Liss JM
FAU - Caviness, John N
AU  - Caviness JN
FAU - Strongosky, Audrey J
AU  - Strongosky AJ
FAU - Wszolek, Zbigniew K
AU  - Wszolek ZK
LA  - eng
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20061229
PL  - England
TA  - Parkinsonism Relat Disord
JT  - Parkinsonism & related disorders
JID - 9513583
RN  - 0 (tau Proteins)
RN  - 0Z5B2CJX4D (Fluorodeoxyglucose F18)
RN  - 7006-34-0 (Asparagine)
RN  - K3Z4F929H6 (Lysine)
SB  - IM
MH  - Adult
MH  - Asparagine/*genetics
MH  - Cerebral Cortex/diagnostic imaging/pathology
MH  - Chromosomes, Human, Pair 17
MH  - Dementia/diagnostic imaging/*genetics/pathology
MH  - Family Health
MH  - Female
MH  - Fluorodeoxyglucose F18/pharmacokinetics
MH  - Humans
MH  - Lysine/*genetics
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Neuropsychological Tests
MH  - Parkinsonian Disorders/diagnostic imaging/*genetics/pathology
MH  - Positron-Emission Tomography/methods
MH  - tau Proteins/*genetics
EDAT- 2007/01/02 09:00
MHDA- 2007/07/19 09:00
CRDT- 2007/01/02 09:00
PHST- 2006/06/30 00:00 [received]
PHST- 2006/10/12 00:00 [revised]
PHST- 2006/10/16 00:00 [accepted]
PHST- 2007/01/02 09:00 [pubmed]
PHST- 2007/07/19 09:00 [medline]
PHST- 2007/01/02 09:00 [entrez]
AID - S1353-8020(06)00239-2 [pii]
AID - 10.1016/j.parkreldis.2006.10.007 [doi]
PST - ppublish
SO  - Parkinsonism Relat Disord. 2007 May;13(4):230-9. doi: 
      10.1016/j.parkreldis.2006.10.007. Epub 2006 Dec 29.