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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
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
Levin J, Kurz A, Arzberger T, Giese A, Höglinger GU
Dtsch Arztebl Int 2016 Feb 5;113(5):61-9. doi: 10.3238/arztebl.2016.0061. PMID: 26900156Free 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
Parmera JB, Oliveira MCB, Rodrigues RD, Coutinho AM
Arq Neuropsiquiatr 2022 May;80(5 Suppl 1):126-136. doi: 10.1590/0004-282X-ANP-2022-S134. PMID: 35976324Free PMC Article
Riku Y, Iwasaki Y, Ishigaki S, Akagi A, Hasegawa M, Nishioka K, Li Y, Riku M, Ikeuchi T, Fujioka Y, Miyahara H, Sone J, Hattori N, Yoshida M, Katsuno M, Sobue G
Brain 2022 Aug 27;145(8):2769-2784. doi: 10.1093/brain/awac091. PMID: 35274674
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
Wen Y, Zhou Y, Jiao B, Shen L
J Parkinsons Dis 2021;11(1):93-105. doi: 10.3233/JPD-202302. PMID: 33104043Free PMC Article

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
Olney NT, Spina S, Miller BL
Neurol Clin 2017 May;35(2):339-374. doi: 10.1016/j.ncl.2017.01.008. PMID: 28410663Free PMC Article

Therapy

Horie K, Barthélemy NR, Spina S, VandeVrede L, He Y, Paterson RW, Wright BA, Day GS, Davis AA, Karch CM, Seeley WW, Perrin RJ, Koppisetti RK, Shaikh F, Lago AL, Heuer HW, Ghoshal N, Gabelle A, Miller BL, Boxer AL, Bateman RJ, Sato C
Nat Med 2022 Dec;28(12):2547-2554. Epub 2022 Nov 24 doi: 10.1038/s41591-022-02075-9. PMID: 36424467Free PMC Article
Mantle D, Hargreaves IP
Int J Mol Sci 2022 Oct 20;23(20) doi: 10.3390/ijms232012603. PMID: 36293457Free PMC Article
Stamelou M, Respondek G, Giagkou N, Whitwell JL, Kovacs GG, Höglinger GU
Nat Rev Neurol 2021 Oct;17(10):601-620. Epub 2021 Aug 23 doi: 10.1038/s41582-021-00541-5. PMID: 34426686
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

Prognosis

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
Keener AM, Bordelon YM
Semin Neurol 2016 Aug;36(4):330-4. Epub 2016 Sep 19 doi: 10.1055/s-0036-1585097. PMID: 27643900

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
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
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
Ali F, Josephs K
Expert Rev Neurother 2018 Jul;18(7):603-616. Epub 2018 Jun 28 doi: 10.1080/14737175.2018.1489241. PMID: 29902389
Pahwa R
Med Clin North Am 1999 Mar;83(2):369-79, v-vi. doi: 10.1016/s0025-7125(05)70109-7. PMID: 10093583

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
Chan LML, Yan OY, Lee JJJ, Lam WWT, Lin CC, Auyeung M, Bloem BR, Kwok JYY
J Am Med Dir Assoc 2023 Feb;24(2):171-184. Epub 2022 Dec 5 doi: 10.1016/j.jamda.2022.11.001. PMID: 36481217
Artusi CA, Rinaldi D, Balestrino R, Lopiano L
Parkinsonism Relat Disord 2022 Mar;96:109-118. Epub 2022 Mar 9 doi: 10.1016/j.parkreldis.2022.03.002. PMID: 35288028
França C, de Andrade DC, Teixeira MJ, Galhardoni R, Silva V, Barbosa ER, Cury RG
Brain Stimul 2018 Mar-Apr;11(2):249-260. Epub 2017 Nov 23 doi: 10.1016/j.brs.2017.11.015. PMID: 29191439
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

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