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Progressive supranuclear palsy

MedGen UID:
21026
Concept ID:
C0038868
Disease or Syndrome
Synonym: Steele-Richardson-Olszewski Syndrome
SNOMED CT: Progressive supranuclear palsy (192976002); PSP - progressive supranuclear palsy (192976002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related gene: MAPT
 
Monarch Initiative: MONDO:0019037
OMIM®: 601104
OMIM® Phenotypic series: PS601104
Orphanet: ORPHA683

Definition

A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson''s syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. [from SNOMEDCT_US]

Professional guidelines

PubMed

Rowe JB, Holland N, Rittman T
Pract Neurol 2021 Oct;21(5):376-383. Epub 2021 Jul 2 doi: 10.1136/practneurol-2020-002794. PMID: 34215700Free PMC Article
Coughlin DG, Litvan I
Parkinsonism Relat Disord 2020 Apr;73:105-116. Epub 2020 May 25 doi: 10.1016/j.parkreldis.2020.04.014. PMID: 32487421Free PMC Article
Höglinger GU, Respondek G, Stamelou M, Kurz C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Nilsson C, Whitwell JL, Arzberger T, Englund E, Gelpi E, Giese A, Irwin DJ, Meissner WG, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Bordelon Y, Compta Y, Corvol JC, Colosimo C, Dickson DW, Dodel R, Ferguson L, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris HR, Nestor P, Oertel WH, Poewe W, Rabinovici G, Rowe JB, Schellenberg GD, Seppi K, van Eimeren T, Wenning GK, Boxer AL, Golbe LI, Litvan I; Movement Disorder Society-endorsed PSP Study Group
Mov Disord 2017 Jun;32(6):853-864. Epub 2017 May 3 doi: 10.1002/mds.26987. PMID: 28467028Free PMC Article

Recent clinical studies

Etiology

Pantelyat A
Continuum (Minneap Minn) 2022 Oct 1;28(5):1364-1378. doi: 10.1212/CON.0000000000001158. PMID: 36222770
Rowe JB, Holland N, Rittman T
Pract Neurol 2021 Oct;21(5):376-383. Epub 2021 Jul 2 doi: 10.1136/practneurol-2020-002794. PMID: 34215700Free PMC Article
Bayram E, Marras C, Standaert DG, Kluger BM, Bordelon YM, Shprecher DR, Litvan I; ENGENE-PSP Consortium
Mov Disord 2020 Jul;35(7):1253-1257. Epub 2020 Mar 27 doi: 10.1002/mds.28038. PMID: 32220093Free PMC Article
Meyer PT, Frings L, Rücker G, Hellwig S
J Nucl Med 2017 Dec;58(12):1888-1898. Epub 2017 Sep 14 doi: 10.2967/jnumed.116.186403. PMID: 28912150
Golbe LI
Semin Neurol 2014 Apr;34(2):151-9. Epub 2014 Jun 25 doi: 10.1055/s-0034-1381736. PMID: 24963674

Diagnosis

Pantelyat A
Continuum (Minneap Minn) 2022 Oct 1;28(5):1364-1378. doi: 10.1212/CON.0000000000001158. PMID: 36222770
Rowe JB, Holland N, Rittman T
Pract Neurol 2021 Oct;21(5):376-383. Epub 2021 Jul 2 doi: 10.1136/practneurol-2020-002794. PMID: 34215700Free PMC Article
Coughlin DG, Litvan I
Parkinsonism Relat Disord 2020 Apr;73:105-116. Epub 2020 May 25 doi: 10.1016/j.parkreldis.2020.04.014. PMID: 32487421Free PMC Article
Giagkou N, Höglinger GU, Stamelou M
Int Rev Neurobiol 2019;149:49-86. Epub 2019 Nov 21 doi: 10.1016/bs.irn.2019.10.013. PMID: 31779824
Raposo Rodríguez L, Tovar Salazar DJ, Fernández García N, Pastor Hernández L, Fernández Guinea Ó
Radiologia (Engl Ed) 2018 Nov-Dec;60(6):476-484. Epub 2018 Jun 11 doi: 10.1016/j.rx.2018.04.003. PMID: 29903629

Therapy

Mantle D, Hargreaves IP
Int J Mol Sci 2022 Oct 20;23(20) doi: 10.3390/ijms232012603. PMID: 36293457Free PMC Article
Bayram E, Marras C, Standaert DG, Kluger BM, Bordelon YM, Shprecher DR, Litvan I; ENGENE-PSP Consortium
Mov Disord 2020 Jul;35(7):1253-1257. Epub 2020 Mar 27 doi: 10.1002/mds.28038. PMID: 32220093Free PMC Article
Pîrşcoveanu DFV, Pirici I, Tudorică V, Bălşeanu TA, Albu VC, Bondari S, Bumbea AM, Pîrşcoveanu M
Rom J Morphol Embryol 2017;58(4):1141-1150. PMID: 29556602
Meyer PT, Frings L, Rücker G, Hellwig S
J Nucl Med 2017 Dec;58(12):1888-1898. Epub 2017 Sep 14 doi: 10.2967/jnumed.116.186403. PMID: 28912150
Boeve BF
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S192-4. doi: 10.1016/S1353-8020(11)70060-8. PMID: 22166432

Prognosis

Devi G
Handb Clin Neurol 2023;196:251-265. doi: 10.1016/B978-0-323-98817-9.00015-6. PMID: 37620072
Pantelyat A
Continuum (Minneap Minn) 2022 Oct 1;28(5):1364-1378. doi: 10.1212/CON.0000000000001158. PMID: 36222770
Raposo Rodríguez L, Tovar Salazar DJ, Fernández García N, Pastor Hernández L, Fernández Guinea Ó
Radiologia (Engl Ed) 2018 Nov-Dec;60(6):476-484. Epub 2018 Jun 11 doi: 10.1016/j.rx.2018.04.003. PMID: 29903629
Meyer PT, Frings L, Rücker G, Hellwig S
J Nucl Med 2017 Dec;58(12):1888-1898. Epub 2017 Sep 14 doi: 10.2967/jnumed.116.186403. PMID: 28912150
Höglinger GU, Respondek G, Stamelou M, Kurz C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Nilsson C, Whitwell JL, Arzberger T, Englund E, Gelpi E, Giese A, Irwin DJ, Meissner WG, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Bordelon Y, Compta Y, Corvol JC, Colosimo C, Dickson DW, Dodel R, Ferguson L, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris HR, Nestor P, Oertel WH, Poewe W, Rabinovici G, Rowe JB, Schellenberg GD, Seppi K, van Eimeren T, Wenning GK, Boxer AL, Golbe LI, Litvan I; Movement Disorder Society-endorsed PSP Study Group
Mov Disord 2017 Jun;32(6):853-864. Epub 2017 May 3 doi: 10.1002/mds.26987. PMID: 28467028Free PMC Article

Clinical prediction guides

Lukic MJ, Respondek G, Kurz C, Compta Y, Gelpi E, Ferguson LW, Rajput A, Troakes C; MDS-endorsed PSP study group, van Swieten JC, Giese A, Roeber S, Herms J, Arzberger T, Höglinger G
Ann Neurol 2022 Oct;92(4):637-649. Epub 2022 Aug 12 doi: 10.1002/ana.26455. PMID: 35872640
Clark HM, Stierwalt JAG, Tosakulwong N, Botha H, Ali F, Whitwell JL, Josephs KA
Dysphagia 2020 Aug;35(4):667-676. Epub 2019 Nov 1 doi: 10.1007/s00455-019-10073-2. PMID: 31676923Free PMC Article
Fabbrini G, Fabbrini A, Suppa A
Handb Clin Neurol 2019;165:155-177. doi: 10.1016/B978-0-444-64012-3.00009-5. PMID: 31727210
Rabadia SV, Litvan I, Juncos J, Bordelon Y, Riley DE, Standaert D, Reich SG, Hall DA, Kluger B, Shprecher D, Marras C, Jankovic J; ENGENE PSP study
Parkinsonism Relat Disord 2019 Sep;66:166-170. Epub 2019 Aug 3 doi: 10.1016/j.parkreldis.2019.07.036. PMID: 31420308
Raposo Rodríguez L, Tovar Salazar DJ, Fernández García N, Pastor Hernández L, Fernández Guinea Ó
Radiologia (Engl Ed) 2018 Nov-Dec;60(6):476-484. Epub 2018 Jun 11 doi: 10.1016/j.rx.2018.04.003. PMID: 29903629

Recent systematic reviews

Jin J, Su D, Zhang J, Li X, Feng T
J Neurol 2023 May;270(5):2451-2467. Epub 2023 Jan 12 doi: 10.1007/s00415-022-11556-3. PMID: 36633672
Flavell J, Nestor PJ
J Geriatr Psychiatry Neurol 2022 May;35(3):280-292. Epub 2021 Feb 11 doi: 10.1177/0891988721993545. PMID: 33567955
Parthimos TP, Schulpis KH
Clin Gerontol 2020 Mar-Apr;43(2):155-180. Epub 2019 Nov 22 doi: 10.1080/07317115.2019.1694115. PMID: 31752626
Lopez G, Bayulkem K, Hallett M
Acta Neurol Scand 2016 Oct;134(4):242-9. Epub 2016 Jan 6 doi: 10.1111/ane.12546. PMID: 27070344Free PMC Article
Rampello L, Buttà V, Raffaele R, Vecchio I, Battaglia G, Cormaci G, Alvano A
Neurobiol Dis 2005 Nov;20(2):179-86. doi: 10.1016/j.nbd.2005.03.013. PMID: 16242626

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