Pathophysiology, genetics, clinical features, diagnosis and therapeutic trials in progressive supranuclear palsy

Bibliography

• Richardson JC, Steele J, Olszewski J. Supranuclear ophthalmoplegia, pseudobulbar palsy, nuchal dystonia and dementia. a clinical report on eight cases of heterogenous system degeneration. Trans Am Neurol Assoc 1963;88:25-9
   PubMedGoogle Scholar
• Zampieri C, DiFabio R. PSP: disease profile and rehabilitation strategies. Phys Ther 2006;86:870-80
   PubMed Web of Science ®Google Scholar
• Williams DR, Lee AJ. Progressive Supranuclear Palsy: clinicopathologic and diagnostic challenges. Lancet Neurol 2009;8:270-9
   PubMed Web of Science ®Google Scholar
• Maher ER, Lee AJ. The clinical features and natural history of the Steele Richardson Olszewski Syndrome PSP. Neurology 1986;36:1005-8
   PubMed Web of Science ®Google Scholar
• Kristensen MO. Progressive supranuclear palsy – 20 years later. Acta Neurol Scanda 1985;71:177-89
   PubMedGoogle Scholar
• Bower M, Maraganore D, McDonnell S, et al. Incidence of Progressive supranuclear palsy and multiple system atrophy in Olmstead County, Minnesota, from 1976 to 1990. Neurology 1997;49:1284-8
   PubMed Web of Science ®Google Scholar
• Fahn S, Jankovic J, Hallett M. Principles and practice of movement disorders. 2nd Edition. Elsevier, United States; 2011
   Google Scholar
• Hoglinger G, Melhem N, Dickson D, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet 2011;43:699-705
   PubMed Web of Science ®Google Scholar
• Nath U, Thomson R, Wood R, et al. Population-based mortality and quality of death certification in progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome). J Neurol Neurosurg Psychiatry 2005;76:498-502
   PubMedGoogle Scholar
• Williams DR, de Silva R, Paviour DC, et al. Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: richardson’s syndrome and PSP-parkinsonism. Brain 2005;128:1247-58
   PubMed Web of Science ®Google Scholar
• Yasushi O, Yoav B, Lees AJ, et al. Accuracy of clinical diagnosis of progressive supranuclear palsy. Mov Disord 2004;19:181-9
   PubMedGoogle Scholar
• Litvan I, Agid Y, Caline D, et al. Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology 1996;47(1):1-9
   PubMed Web of Science ®Google Scholar
• Litvan I, Mangone CA, McKee A, et al. Natural history of progressive supranuclear palsy and clinical predictors of survival: a clinicopathological study. J Neurol Neurosurg Psychiatry 1996;60(6):615-20
   PubMed Web of Science ®Google Scholar
• Davis P, Bergeron C, Fellow C, McLachlan D. Atypical presentation of progressive supranuclear palsy. Ann Neurol 1985;17:337-43
   PubMed Web of Science ®Google Scholar
• Collins S, Ahlskog J, Parisi J, Maraganore D. Progressive Supranuclear Palsy: neuropathologically based clinical diagnostic criteria. J Neurol Neurosurg Psychiatry 1995;58:167-73
   PubMed Web of Science ®Google Scholar
• Daniel SE, De Bruin VMS, Lees AJ. The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal. Brain 1995;118:759-70
   PubMed Web of Science ®Google Scholar
• Friedman D, Jankovic J, McCrary JIII. Neuro-ophthalmic findings in progressive supranuclear palsy. Journal Clin Neuroophthalmol 1992;12:104-9
   PubMedGoogle Scholar
• Romano S, Colosimo C. Procerus sign in progressive supranuclear palsy. Neurology 2001;57(10):1928
   PubMedGoogle Scholar
• Troost BT, Daroff RB. The ocular motor defects in progressive supranuclear palsy. Ann Neurol 1977;2(5):397-403
   PubMed Web of Science ®Google Scholar
• Jankovic J. Parkinson’s disease: clinical features and diagnosis. J Neurol Neurosurg Psychiatry 2008;79:368-76
   PubMed Web of Science ®Google Scholar
• Litvan I. Update on progressive supranuclear palsy. Curr Neurol Neurosci Rep 2004;4:296-302
   PubMedGoogle Scholar
• Kluin KJ, Foster NL, Berent S, Gilman S. Perceptual analysis of speech disorders in progressive supranuclear palsy. Neurology 1993;43(3 Part 1):563
   PubMedGoogle Scholar
• Litvan I, Mega MS, Cummings JL, Fairbanks L. Neuropsychiatric aspects of progressive supranuclear palsy. Neurology 1996;47(5):1184-9
   PubMed Web of Science ®Google Scholar
• Litvan I. Atypical parkinsonian disorders. Humana Press; 2005
   Google Scholar
• Dubois B, Pillon B, Legault F, et al. Slowing of cognitive processing in progressive supranuclear palsy: a comparison with Parkinson’s disease. Arch Neurol 1988;45(11):1194
   PubMedGoogle Scholar
• Brown RG, Lacomblez L, Landwehrmeyer BG, et al. Cognitive impairment in patients with multiple system atrophy and progressive supranuclear palsy. Brain 2010;133(Pt 8):2382-93
   PubMedGoogle Scholar
• Golbe LI, Boeve BF, Keegan BM, Parisi JE. An 81-year-old man with imbalance and memory impairment. Neurology 2008;68(14):1147-52
   Google Scholar
• Dubois B, Slachevsky A, Pillon B, et al. Applause sign helps to discriminate PSP from FTD and PD. Neurology 2005;64(12):2132-3
   PubMedGoogle Scholar
• Wu LJ, Sitburana O, Davidson A, Jankovic J. Applause sign in Parkinsonian disorders and Huntington’s disease. Mov Disord 2008;23(16):2307-11
   PubMedGoogle Scholar
• Burrell J, Hodges J, Rhodes J. Cognition in corticobasal syndrome and progressive supranuclear palsy: a review. Mov Disord 2014;29(5):684-93
   PubMed Web of Science ®Google Scholar
• Johnson R, Litvan I, Grafman J, et al. Progressive supranuclear palsy Altered sensory processing leads to degraded cognition. Neurology 1991;41(8):1257-7
   PubMed Web of Science ®Google Scholar
• Pontieri FE, Assogna F, Stefani A, et al. Sad and happy facial emotion recognition impairment in progressive supranuclear palsy in comparison with Parkinson’s disease. Parkinsonism Relat Disord 2012;18(7):871-5
   PubMedGoogle Scholar
• Schrag A, Sheikh S, Quinn NP, et al. A comparison of depression, anxiety, and health status in patients with progressive supranuclear palsy and multiple system atrophy. Mov Disord 2010;25(8):1077-81
   PubMed Web of Science ®Google Scholar
• Williams DR, Watt HC, Lees AJ. Predictors of falls and fractures in bradykinetic rigid syndromes: a retrospective study. J Neurol Neurosurg Psychiatry 2006;77(4):468-73
   PubMedGoogle Scholar
• 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(5):1758-66
   PubMedGoogle Scholar
• Liscic RM, Srulijes K, Gröger A, et al. Differentiation of progressive supranuclear palsy: clinical, imaging and laboratory tools. Acta Neurol Scand 2013;127(5):362-70
   PubMed Web of Science ®Google Scholar
• Matsuo H, Takashima H, Kishikawa M, et al. Pure akinesia: an atypical manifestation of progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 1991;54(5):397-400
   PubMedGoogle Scholar
• Riley DE, Fogt N, Leigh RJ. The syndrome of pure akinesia and its relationship to progressive supranuclear palsy. Neurology 1994;44(6):1025
   PubMedGoogle Scholar
• Williams DR, Holton JL, Strand K, et al. Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy. Mov Disord 2007;22(15):2235-41
   PubMed Web of Science ®Google Scholar
• Cordato NJ, Halliday GM, McCann H, et al. Corticobasal syndrome with tau pathology. Mov Disord 2001;16(4):656-67
   PubMedGoogle Scholar
• Tsuboi Y, Josephs KA, Boeve BF, et al. Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome. Mov Disord 2005;20(8):982-8
   PubMed Web of Science ®Google Scholar
• Rivaud-Pechoux S, Vidailhet M, Gallouedec G, et al. Longitudinal ocular motor study in corticobasal degeneration and progressive supranuclear palsy. Neurology 2000;54(5):1029-32
   PubMedGoogle Scholar
• Rohrer JD, Paviour D, Bronstein AM, et al. Progressive supranuclear palsy syndrome presenting as progressive nonfluent aphasia: a neuropsychological and neuroimaging analysis. Mov Disord 2010;25(2):179-88
   PubMed Web of Science ®Google Scholar
• Josephs K, Duffy JR. Apraxia of speech and nonfluent aphasia: a new clinical marker for corticobasal degeneration and progressive supranuclear palsy. Curr Opin Neurol 2008;21(6):688-92
   PubMed Web of Science ®Google Scholar
• Neary D, Snowden JS, Gustafson L, et al. Frontotemporal lobar degeneration A consensus on clinical diagnostic criteria. Neurology 1998;51(6):1546-54
   PubMed Web of Science ®Google Scholar
• Boeve B, Dickson D, Duffy J, et al. Progressive nonfluent aphasia and subsequent aphasic dementia associated with atypical progressive supranuclear palsy pathology. Eur Neurol 2003;49(2):72-8
   PubMed Web of Science ®Google Scholar
• Josephs K, Duffy JR, Strand E, et al. Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain 2006;129(6):1385-98
   PubMedGoogle Scholar
• Osaki Y, Ben-Shlomo Y, Lees AJ, et al. Accuracy of clinical diagnosis of progressive supranuclear palsy. Mov Disord 2004;19(2):181-9
   PubMed Web of Science ®Google Scholar
• Hughes AJ, Daniel SE, Ben-Shlomo Y, et al. The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service. Brain 2002;125(4):861-70
   PubMedGoogle Scholar
• Litvan I, Agid Y, Jankovic J, et al. Accuracy of clinical criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome). Neurology 1996;46(4):922-30
   PubMed Web of Science ®Google Scholar
• Litvan I, Campbell G, Mangone CA, et al. Which clinical features differentiate progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) from related disorders? a clinicopathological study. Brain 1997;120(1):65-74
   PubMedGoogle Scholar
• Litvan I, Bhatia K.P, Burn DJ, et al. SIC Task Force appraisal of clinical diagnostic criteria for parkinsonian disorders. Mov Disord 2003;18(5):467-86
   PubMed Web of Science ®Google Scholar
• Warmuth-Metz M, Naumann M, Csoti L, et al. Measurement of the midbrain diameter on routine magnetic resonance imaging: a simple and accurate method of differentiating between Parkinson disease and progressive supranuclear palsy. Arch Neurol 2001;58(7):1076-9
   PubMedGoogle Scholar
• Quattrone A, Nicoletti G, Messina D, et al. MR imaging index for differentiation of progressive supranuclear palsy from parkinson disease and the parkinson variant of multiple system atrophy 1. Radiology 2008;246(1):214-21
   PubMed Web of Science ®Google Scholar
• Oba H, Yagishita A, Terada H, et al. New and reliable MRI diagnosis for progressive supranuclear palsy. Neurology 2005;64(12):2050-5
   PubMed Web of Science ®Google Scholar
• Karimi M, Perlmutter JS. MRI measures predict progressive supranuclear palsy Clinically useful? Neurology 2011;77(11):1028-9
   PubMedGoogle Scholar
• Kato N, Arai K, Hattori T. Study of the rostral midbrain atrophy in progressive supranuclear palsy. J Neurol Sci 2003;210(1):57-60
   PubMedGoogle Scholar
• Adachi M, Kawanami T, Ohshima H, et al. Morning glory sign: a particular MR finding in progressive supranuclear palsy. Magn Reson Med Sci 2004;3(3):125-32
   PubMedGoogle Scholar
• Massey LA, Jäger HR, Paviour DC, et al. The midbrain to pons ratio: a simple and specific MRI sign of progressive supranuclear palsy. Neurology 2013;80(20):1856-61
   PubMed Web of Science ®Google Scholar
• Morelli M, Arabia G, Salsone M, et al. Accuracy of magnetic resonance parkinsonism index for differentiation of progressive supranuclear palsy from probable or possible Parkinson disease. Mov Disord 2011;26(3):527-33
   PubMed Web of Science ®Google Scholar
• Morelli M, Arabia G, Messina D, et al. Effect of aging on magnetic resonance measures differentiating progressive supranuclear palsy from Parkinson’s disease. Mov Disord 2014;29(4):488-95
   PubMedGoogle Scholar
• Longoni G, Agosta F, Kostić VS, et al. MRI measurements of brainstem structures in patients with Richardson’s syndrome, progressive supranuclear palsy-parkinsonism, and Parkinson’s disease. Mov Disord 2011;26(2):247-55
   PubMed Web of Science ®Google Scholar
• Padovani A, Borroni B, Brambati SM, et al. Diffusion tensor imaging and voxel based morphometry study in early progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 2006;77(4):457-63
   PubMedGoogle Scholar
• Cochrane CJ, Ebmeier KP. Diffusion tensor imaging in parkinsonian syndromes A systematic review and meta-analysis. Neurology 2013;80(9):857-64
   PubMed Web of Science ®Google Scholar
• Ito S, Makino T, Shirai W, Hattori T. Diffusion tensor analysis of corpus callosum in progressive supranuclear palsy. Neuroradiology 2008;50(11):981-5
   PubMed Web of Science ®Google Scholar
• Cherubini A, Morelli M, Nisticó R, et al. Magnetic resonance support vector machine discriminates between Parkinson disease and progressive supranuclear palsy. Mov Disord 2014;29(2):266-9
   PubMedGoogle Scholar
• Bajaj N, Hauser RA, Grachev ID. Clinical utility of dopamine transporter single photon emission CT (DaT-SPECT) with (123I) ioflupane in diagnosis of parkinsonian syndromes. J Neurol Neurosurg Psychiatry 2013;84(11):1288-95
   PubMed Web of Science ®Google Scholar
• Oh M, Kim JS, Kim JY, et al. Subregional patterns of preferential striatal dopamine transporter loss differ in Parkinson disease, progressive supranuclear palsy, and multiple-system atrophy. J Nucl Med 2012;53(3):399-406
   PubMed Web of Science ®Google Scholar
• Mishina M, Ishii K, Mitani K, et al. Midbrain hypometabolism as early diagnostic sign for progressive supranuclear palsy. Acta Neurol Scand 2004;110(2):128-35
   PubMedGoogle Scholar
• Eckert T, Barnes A, Dhawan V, et al. FDG PET in the differential diagnosis of parkinsonian disorders. Neuroimage 2005;26(3):912-21
   PubMed Web of Science ®Google Scholar
• Kepe V, Bordelon Y, Boxer A, et al. PET imaging of neuropathology in tauopathies: progressive supranuclear palsy. J Alzheimers Dis 2013;36(1):145-53
   PubMedGoogle Scholar
• Bird T. Neurogenetic diseases. In: Encyclopedia of neuroscience. 2009. p. 2680-1
   Google Scholar
• Joachim CL, Morris JH, Kosik KS, et al. Tau antisera recognize neurofibrillary tangles in a range of neurodegenerative disorders. Ann Neurol 1987;22(4):514-20
   PubMedGoogle Scholar
• Luk C, Compta Y, Magdalinou N, et al. Development and assessment of sensitive immuno-PCR assays for the quantification of cerebrospinal fluid three-and four-repeat tau isoforms in tauopathies. J Neurochem 2012;123(3):396-405
   PubMedGoogle Scholar
• Williams DR, Holton JL, Strand C, et al. Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson’s syndrome. Brain 2007;130(6):1566-76
   PubMedGoogle Scholar
• Hauw JJ, Daniel SE, Dickson D, et al. Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology 1994;44(11):2015
   PubMed Web of Science ®Google Scholar
• Stamelou M, de Silva R, Arias-Carrión O, et al. Rational therapeutic approaches to progressive supranuclear palsy. Brain 2010;133(6):1578-90
   PubMedGoogle Scholar
• Kaat LD, Boon AJW, Azmani A, et al. Familial aggregation of parkinsonism in progressive supranuclear palsy. Neurology 2009;73(2):98-105
   PubMedGoogle Scholar
• Dickson DW, Rademakers R, Hutton ML. Progressive supranuclear palsy: pathology and genetics. Brain Pathol 2007;17(1):74-82
   PubMed Web of Science ®Google Scholar
• CurePSP. Annual Report 2013. Foundation for PSP/CBD and Related Brain Diseases, Timomium, MD. Available from: http://webcache.googleusercontent.com/search?q=cache:HuEOamek-EYJ:www.psp.org/file_download/c56840a0-6e6f-4bf6-baba-6dd6142d168a+&cd=2&hl=en&ct=clnk&gl=us [Last accessed 10 January 2015]
   Google Scholar
• Bensimon G, Ludolph A, Agid Y, et al. Riluzole treatment, survival and diagnostic criteria in Parkinson plus disorders: the NNIPPS Study. Brain 2009;132:156-71
   PubMed Web of Science ®Google Scholar
• Golbe L. The tau of PSP: A long road to treatment. Mov Disord 2014;29(4):431-4
   PubMedGoogle Scholar
• Boxer AL, Lang AE, Grossman M, et al. Davunetide in patients with progressive supranuclear palsy: a randomised, double-blind, placebo-controlled phase 2/3 trial. Lancet Neurol 2014;13(7):676-85
   PubMed Web of Science ®Google Scholar
• Boxer A. Safety Study of TPI-287 to Treat CBS and PSP (TPI-287-4RT). In: ClinicalTrials.gov [Internet]. National Library of Medicine (US), Bethesda, MD;2000. [Cited 23 November 2014] Available from: http://clinicaltrials.gov/show/NCT02133846 NLM identifier: NCT02133846 [Last accessed 10 January 2015]
   Google Scholar
• Tolosa E, Litvan I, Höglinger G, et al. A phase 2 trial of the GSK-3 inhibitor tideglusib in progressive supranuclear palsy. Mov Disord 2014;29(4):470-8
   PubMed Web of Science ®Google Scholar
• Höglinger G, Huppertz HJ, Wagenpfeil S, et al. Tideglusib reduces progression of brain atrophy in progressive supranuclear palsy in a randomized trial. Mov Disord 2014;29(4):479-87
   PubMed Web of Science ®Google Scholar
• Stamelou M, Reuss A, Pilatus U, et al. Short-term effects of coenzyme Q10 in progressive supranuclear palsy: a randomized, placebo-controlled trial. Mov Disord 2008;23(7):942-9
   PubMed Web of Science ®Google Scholar
• Apetauerova D, Standaert DG, Yacoubian T. Effects of coenzyme Q10 in PSP, a multicenter, randomized, placebo-controlled, double-blind study. MDS 18th International Congress of Parkinson’s Disease and Movement Disorders; Volume 29 June 2014; Abstract Supplement
   Google Scholar
• Munro-Davies L, Winter J, Aziz TZ, Stein J. Kainate acid lesions of the pedunculopontine region in the normal behaving primate. Mov Disord 2001;16:150-1
   PubMed Web of Science ®Google Scholar
• Servello D, Zekaj E, Saleh C, et al. Long-term follow-up of deep brain stimulation of peduncolopontine nucleus in progressive supranuclear palsy: report of three cases. Surg Neurol Int 2014;5:416-20
   PubMedGoogle Scholar
• Hazrati L, Wong J, Hamani C, et al. Clinicopathological study in progressive supranuclear palsy with pedunculopontine stimulation. Mov Disord 2012;27:1304-7
   PubMed Web of Science ®Google Scholar
• Magdalinou N, Lees AJ, Zetterberg H. Cerebrospinal fluid biomarkers in parkinsonian conditions: an update and future directions. J Neurol Neurosurg Psychiatry 2014;10:1136
   Google Scholar
• Borroni B, Malinverno M, Gardoni F, et al. Tau forms in CSF as a reliable biomarker for progressive supranuclear palsy. Neurology 2008;71(22):1796-803
   PubMed Web of Science ®Google Scholar
• Scherling CS, Hall T, Berisha F, et al. Cerebrospinal fluid neurofilament concentration reflects disease severity in frontotemporal degeneration. Ann Neurol 2014;75(1):116-26
   PubMed Web of Science ®Google Scholar
• Jagust W. Time for tau. Brain 2014. Published online 15 April 2014 Available from: http://dx.doi.org/10.1093/brain/awu093 [Last accessed 10 January 2015]
   Google Scholar