Which ante mortem clinical features predict progressive supranuclear palsy pathology?

for the Movement Disorder Society-Endorsed PSP Study Group

Research output: Contribution to journalArticle

46 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)995-1005
Number of pages11
JournalMovement Disorders
Volume32
Issue number7
DOIs
StatePublished - Jul 1 2017

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Progressive Supranuclear Palsy
Pathology
Phenotype
Sensitivity and Specificity
Multiple System Atrophy
Frontotemporal Dementia
Parkinsonian Disorders
Natural History

Keywords

  • clinical features
  • clinico-pathological series
  • diagnosis
  • Progressive supranuclear palsy
  • systematic review

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Which ante mortem clinical features predict progressive supranuclear palsy pathology? / for the Movement Disorder Society-Endorsed PSP Study Group.

In: Movement Disorders, Vol. 32, No. 7, 01.07.2017, p. 995-1005.

Research output: Contribution to journalArticle

for the Movement Disorder Society-Endorsed PSP Study Group 2017, 'Which ante mortem clinical features predict progressive supranuclear palsy pathology?', Movement Disorders, vol. 32, no. 7, pp. 995-1005. https://doi.org/10.1002/mds.27034
for the Movement Disorder Society-Endorsed PSP Study Group. / Which ante mortem clinical features predict progressive supranuclear palsy pathology?. In: Movement Disorders. 2017 ; Vol. 32, No. 7. pp. 995-1005.
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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.",
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AU - Englund, Elisabet

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AU - Rajput, Alex

AU - van Swieten, John C.

AU - Troakes, Claire

AU - Josephs, Keith Anthony

AU - Lang, Anthony E.

AU - Mollenhauer, Brit

AU - Müller, Ulrich

AU - Whitwell, Jennifer Lynn

AU - Antonini, Angelo

AU - Bhatia, Kailash P.

AU - Bordelon, Yvette

AU - Corvol, Jean Christophe

AU - Colosimo, Carlo

AU - Dodel, Richard

AU - Grossman, Murray

AU - Kassubek, Jan

AU - Krismer, Florian

AU - Levin, Johannes

AU - Lorenzl, Stefan

AU - Morris, Huw

AU - Nestor, Peter

AU - Oertel, Wolfgang H.

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AU - van Eimeren, Thilo

AU - Wenning, Gregor K.

AU - Boxer, Adam

AU - Golbe, Lawrence I.

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AU - Stamelou, Maria

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N2 - 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.

AB - 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.

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