Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Gesine Respondek^{1

2}, Carolin Kurz³, Thomas Arzberger^{2

3

4}, Yaroslau Compta⁵, Elisabet Englund⁶, Leslie W Ferguson⁷, Ellen Gelpi⁸, Armin Giese⁴, David J Irwin⁹, Wassilios G Meissner^{10

11

12}, Christer Nilsson¹³, Alexander Pantelyat¹⁴, Alex Rajput⁷, John C van Swieten¹⁵, Claire Troakes¹⁶, Keith A Josephs¹⁷, Anthony E Lang¹⁸, Brit Mollenhauer¹⁹, Ulrich Müller²⁰, Jennifer L Whitwell²¹, Angelo Antonini²², Kailash P Bhatia²³, Yvette Bordelon²⁴, Jean-Christophe Corvol²⁵, Carlo Colosimo²⁶, Richard Dodel²⁷, Murray Grossman⁹, Jan Kassubek²⁸, Florian Krismer²⁹, Johannes Levin³⁰, Stefan Lorenzl^{31

32

33}, Huw Morris³⁴, Peter Nestor³⁵, Wolfgang H Oertel³⁶, Gil D Rabinovici³⁷, James B Rowe³⁸, Thilo van Eimeren³⁹, Gregor K Wenning²⁹, Adam Boxer³⁷, Lawrence I Golbe⁴⁰, Irene Litvan⁴¹, Maria Stamelou^{36

42

43}, Günter U Höglinger^{1

2}; Movement Disorder Society-Endorsed PSP Study Group

Affiliations

¹ Department of Neurology, Technische Universität München, Munich, Germany.
² German Center for Neurodegenerative Diseases, Munich, Germany.
³ Department of Psychiatry, Ludwig-Maximilians-Universität, Munich, Germany.
⁴ Center for Neuropathology and Prion Research, Ludwig-Maximilians-University, Munich, Germany.
⁵ Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clinic/IDIBAPS/University of Barcelona/CIBERNED, Barcelona, Catalonia, Spain.
⁶ Department of Clinical Sciences, Division of Oncology and Pathology, Lund University, Lund, Sweden.
⁷ Division of Neurology, Royal University Hospital, University of Saskatchewan, Saskatchewan, Canada.
⁸ Neurological Tissue Bank and Neurology Department, Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, CERCA, Barcelona, Catalonia, Spain.
⁹ Frontotemporal Degeneration Center, Department of Neurology, University of Pennsylvania, Pennsylvania, USA.
¹⁰ University of Bordeaux, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.
¹¹ Centre national de la recherche scientifique (CNRS), Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.
¹² Service de Neurologie, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.
¹³ Department of Clinical Sciences, Division of Neurology, Lund University, Lund, Sweden.
¹⁴ Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA.
¹⁵ Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
¹⁶ London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, UK.
¹⁷ Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
¹⁸ Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Canada.
¹⁹ Paracelsus-Elena Klinik Kassel and University Medical Center Goettingen, Institute of Neuropathology, Goettingen, Germany.
²⁰ Institute of Human Genetics, Giessen, Germany.
²¹ Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA.
²² Parkinson and Movement Disorders Unit, Istituto di ricovero e cura a carattere scientifico (IRCCS) Hospital San Camillo and Department of Neurosciences (DNS), Padova University, Padova, Italy.
²³ Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK.
²⁴ Department of Neurology, University of California, Los Angeles, California, USA.
²⁵ Sorbonne Universités, Université Pierre et Marie Curie (UPMC Univ) Paris 06; and INSERM UMRS_1127, CIC_1422; and CNRS UMR_7225; and Assistance publique - Hôpitaux de Paris (AP-HP); and Institut du Cerveau et de la Moelle Epinière (ICM), Hôpital Pitié-Salpêtrière, Département des maladies du système nerveux, F-75013, Paris, France.
²⁶ Department of Neurology, Santa Maria University Hospital of Terni, Terni, Italy.
²⁷ Department of Geriatric Medicine, University Hospital Essen, Essen, Germany.
²⁸ Department of Neurology, University of Ulm, Ulm, Germany.
²⁹ Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
³⁰ Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany.
³¹ Department of Palliative Medicine, Munich University Hospital, Ludwig-Maximilians-Universität (LMU), Munich, Munich, Germany.
³² Institute of Nursing Science and Practice, Paracelsus Medical University, Salzburg, Austria.
³³ Department of Neurology, Hospital Agatharied, Agatharied, Germany.
³⁴ Department of Clinical Neuroscience, UCL Institute of Neurology, London, UK.
³⁵ German Center for Neurodegenerative Diseases, Magdeburg, Germany.
³⁶ Department of Neurology, Philipps Universität, Marburg, Germany.
³⁷ Memory and Aging Center, Department of Neurology, University of California, San Francisco, California, USA.
³⁸ Department of Clinical Neurosciences, Cambridge University, Cambridge, UK.
³⁹ Department of Nuclear Medicine, University Hospital Cologne, Cologne, Germany.
⁴⁰ Department of Neurology, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
⁴¹ Department of Neurology, University of California, San Diego, California, USA.
⁴² Second Department of Neurology, Attikon University Hospital, University of Athens, Greece.
⁴³ HYGEIA Hospital, Athens, Greece.

PMID: 28500752
PMCID: PMC5543934
DOI: 10.1002/mds.27034

Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Gesine Respondek et al. Mov Disord. 2017 Jul.

. 2017 Jul;32(7):995-1005.

doi: 10.1002/mds.27034. Epub 2017 May 13.

Authors

Affiliations

¹ Department of Neurology, Technische Universität München, Munich, Germany.
² German Center for Neurodegenerative Diseases, Munich, Germany.
³ Department of Psychiatry, Ludwig-Maximilians-Universität, Munich, Germany.
⁴ Center for Neuropathology and Prion Research, Ludwig-Maximilians-University, Munich, Germany.
⁵ Parkinson's Disease & Movement Disorders Unit, Neurology Service, Hospital Clinic/IDIBAPS/University of Barcelona/CIBERNED, Barcelona, Catalonia, Spain.
⁶ Department of Clinical Sciences, Division of Oncology and Pathology, Lund University, Lund, Sweden.
⁷ Division of Neurology, Royal University Hospital, University of Saskatchewan, Saskatchewan, Canada.
⁸ Neurological Tissue Bank and Neurology Department, Hospital Clínic de Barcelona, Universitat de Barcelona, IDIBAPS, CERCA, Barcelona, Catalonia, Spain.
⁹ Frontotemporal Degeneration Center, Department of Neurology, University of Pennsylvania, Pennsylvania, USA.
¹⁰ University of Bordeaux, Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.
¹¹ Centre national de la recherche scientifique (CNRS), Institut des Maladies Neurodégénératives, UMR 5293, Bordeaux, France.
¹² Service de Neurologie, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.
¹³ Department of Clinical Sciences, Division of Neurology, Lund University, Lund, Sweden.
¹⁴ Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA.
¹⁵ Department of Neurology, Erasmus Medical Centre, Rotterdam, The Netherlands.
¹⁶ London Neurodegenerative Diseases Brain Bank, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, UK.
¹⁷ Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
¹⁸ Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Canada.
¹⁹ Paracelsus-Elena Klinik Kassel and University Medical Center Goettingen, Institute of Neuropathology, Goettingen, Germany.
²⁰ Institute of Human Genetics, Giessen, Germany.
²¹ Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA.
²² Parkinson and Movement Disorders Unit, Istituto di ricovero e cura a carattere scientifico (IRCCS) Hospital San Camillo and Department of Neurosciences (DNS), Padova University, Padova, Italy.
²³ Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, UK.
²⁴ Department of Neurology, University of California, Los Angeles, California, USA.
²⁵ Sorbonne Universités, Université Pierre et Marie Curie (UPMC Univ) Paris 06; and INSERM UMRS_1127, CIC_1422; and CNRS UMR_7225; and Assistance publique - Hôpitaux de Paris (AP-HP); and Institut du Cerveau et de la Moelle Epinière (ICM), Hôpital Pitié-Salpêtrière, Département des maladies du système nerveux, F-75013, Paris, France.
²⁶ Department of Neurology, Santa Maria University Hospital of Terni, Terni, Italy.
²⁷ Department of Geriatric Medicine, University Hospital Essen, Essen, Germany.
²⁸ Department of Neurology, University of Ulm, Ulm, Germany.
²⁹ Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
³⁰ Department of Neurology, Ludwig-Maximilians-Universität, Munich, Germany.
³¹ Department of Palliative Medicine, Munich University Hospital, Ludwig-Maximilians-Universität (LMU), Munich, Munich, Germany.
³² Institute of Nursing Science and Practice, Paracelsus Medical University, Salzburg, Austria.
³³ Department of Neurology, Hospital Agatharied, Agatharied, Germany.
³⁴ Department of Clinical Neuroscience, UCL Institute of Neurology, London, UK.
³⁵ German Center for Neurodegenerative Diseases, Magdeburg, Germany.
³⁶ Department of Neurology, Philipps Universität, Marburg, Germany.
³⁷ Memory and Aging Center, Department of Neurology, University of California, San Francisco, California, USA.
³⁸ Department of Clinical Neurosciences, Cambridge University, Cambridge, UK.
³⁹ Department of Nuclear Medicine, University Hospital Cologne, Cologne, Germany.
⁴⁰ Department of Neurology, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.
⁴¹ Department of Neurology, University of California, San Diego, California, USA.
⁴² Second Department of Neurology, Attikon University Hospital, University of Athens, Greece.
⁴³ HYGEIA Hospital, Athens, Greece.

PMID: 28500752
PMCID: PMC5543934
DOI: 10.1002/mds.27034

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. © 2017 International Parkinson and Movement Disorder Society.

Keywords: Progressive supranuclear palsy; clinical features; clinico-pathological series; diagnosis; systematic review.

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Conflict of interest statement

Financial Disclosure/ Conflict of Interest concerning the research related to the manuscript: none

References

1. Steele JC, Richardson JC, Olszewski J. Progressive Supranuclear Palsy. A Heterogeneous Degeneration Involving the Brain Stem, Basal Ganglia and Cerebellum with Vertical Gaze and Pseudobulbar Palsy, Nuchal Dystonia and Dementia. Arch Neurol. 1964;10:333–359. - PubMed
1. Coyle-Gilchrist IT, Dick KM, Patterson K, et al. Prevalence, characteristics, and survival of frontotemporal lobar degeneration syndromes. Neurology. 2016;86(18):1736–1743. - PMC - PubMed
1. Schrag A, Ben-Shlomo Y, Quinn NP. Prevalence of progressive supranuclear palsy and multiple system atrophy: a cross-sectional study. Lancet. 1999;354(9192):1771–1775. - PubMed
1. Respondek G, Stamelou M, Kurz C, et al. The phenotypic spectrum of progressive supranuclear palsy: a retrospective multicenter study of 100 definite cases. Mov Disord. 2014;29(14):1758–1766. - PubMed
1. Dickson DW. Neuropathologic differentiation of progressive supranuclear palsy and corticobasal degeneration. J Neurol. 1999;246(2):II6–15. - PubMed

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Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Affiliations

Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Miscellaneous