| Literature DB >> 17196872 |
Zoe Arvanitakis1, 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.
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.Entities:
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Year: 2006 PMID： 17196872 DOI： 10.1016/j.parkreldis.2006.10.007
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891