Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Research output: Contribution to journalReview article

Abstract

Background: Progressive supranuclear palsy (PSP) is a neuropathologically defined disease presenting with a broad spectrum of clinical phenotypes. Objective: To identify clinical features and investigations that predict or exclude PSP pathology during life, aiming at an optimization of the clinical diagnostic criteria for PSP. Methods: We performed a systematic review of the literature published since 1996 to identify clinical features and investigations that may predict or exclude PSP pathology. We then extracted standardized data from clinical charts of patients with pathologically diagnosed PSP and relevant disease controls and calculated the sensitivity, specificity, and positive predictive value of key clinical features for PSP in this cohort. Results: Of 4166 articles identified by the database inquiry, 269 met predefined standards. The literature review identified clinical features predictive of PSP, including features of the following 4 functional domains: ocular motor dysfunction, postural instability, akinesia, and cognitive dysfunction. No biomarker or genetic feature was found reliably validated to predict definite PSP. High-quality original natural history data were available from 206 patients with pathologically diagnosed PSP and from 231 pathologically diagnosed disease controls (54 corticobasal degeneration, 51 multiple system atrophy with predominant parkinsonism, 53 Parkinson's disease, 73 behavioral variant frontotemporal dementia). We identified clinical features that predicted PSP pathology, including phenotypes other than Richardson's syndrome, with varying sensitivity and specificity. Conclusions: Our results highlight the clinical variability of PSP and the high prevalence of phenotypes other than Richardson's syndrome. The features of variant phenotypes with high specificity and sensitivity should serve to optimize clinical diagnosis of PSP.

Details

Authors
  • Elisabet Englund
  • Christer Nilsson
  • for the Movement Disorder Society-Endorsed PSP Study Group
Organisations
External organisations
  • Technical University of Munich
  • German Center for Neurodegenerative Diseases (DZNE), Bonn
  • World Orthopaedic Concern
  • Institutd' Investigacions Biomèdiques August Pi iSunyer (IDIBAPS)
  • Royal University Hospital, Saskatoon
  • University of Barcelona
  • University of Pennsylvania
  • University of Bordeaux
  • Versailles Saint-Quentin-en-Yvelines University
  • Groupe Hospitalier Pellegrin
  • Johns Hopkins University
  • Erasmus University Medical Center
  • King's College London
  • Mayo Clinic Minnesota
  • Toronto Western Hospital
  • University Medical Center Göttingen
  • Justus Liebig University Giessen
  • University of Padova
  • University College London
  • University of California, Los Angeles
  • Pitié Salpetriere University Paris
  • Santa Maria University Hospital
  • University Hospital Essen
  • University of Ulm
  • Medical University of Innsbruck
  • German Center for Lung Research (DZL)
  • Paracelsus Private Medical University of Salzburg
  • Hospital Agatharied
  • Philipp University of Marburg
  • University of Texas Health Science Centre
  • University of Cambridge
  • University Hospital of Cologne
  • Rutgers Robert Wood Johnson Medical School
  • University of California, San Diego
  • Attikon University Hospital
  • Hygeia Hospital
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Neurology

Keywords

  • clinical features, clinico-pathological series, diagnosis, Progressive supranuclear palsy, systematic review
Original languageEnglish
Pages (from-to)995-1005
Number of pages11
JournalMovement Disorders
Volume32
Issue number7
Publication statusPublished - 2017 Jul 1
Publication categoryResearch
Peer-reviewedYes