Ontology highlight
ABSTRACT:
SUBMITTER: Fujioka S
PROVIDER: S-EPMC4306617 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Fujioka Shinsuke S Sanchez Contreras Monica Y MY Strongosky Audrey J AJ Ogaki Kotaro K Whaley Nathaniel Robb NR Tacik Pawel M PM van Gerpen Jay A JA Uitti Ryan J RJ Ross Owen A OA Wszolek Zbigniew K ZK Rademakers Rosa R Dickson Dennis W DW
Parkinsonism & related disorders 20141115 2
<h4>Objective</h4>To describe the clinical, pathological, and genetic features of three sib-pairs of pathologically-confirmed progressive supranuclear palsy (PSP).<h4>Methods</h4>We searched the Mayo Clinic neurodegenerative diseases brain bank for cases of PSP in which more than one family member had pathologically-confirmed PSP. Clinical and pathological data were reviewed and all individuals were screened for mutations in MAPT, by sequencing exons 1, 7, and 9-13.<h4>Results</h4>We identified ...[more]