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Progressive supranuclear palsy-parkinsonism syndrome

MedGen UID:
342410
Concept ID:
C1850077
Disease or Syndrome
Synonyms: Atypical PSP; Parkinson-dementia syndrome; Progressive supranuclear palsy atypical; Supranuclear palsy, progressive, 1, atypical
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): MAPT (17q21.31)
 
Monarch Initiative: MONDO:0009839
OMIM®: 260540
Orphanet: ORPHA240085

Definition

An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP. [from ORDO]

Clinical features

From HPO
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Ophthalmoparesis
MedGen UID:
155551
Concept ID:
C0751401
Sign or Symptom
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive supranuclear palsy-parkinsonism syndrome
Follow this link to review classifications for Progressive supranuclear palsy-parkinsonism syndrome in Orphanet.

Recent clinical studies

Etiology

Shoeibi A, Litvan I, Tolosa E, Ser TD, Lee E; TAUROS Investigators
Parkinsonism Relat Disord 2019 Sep;66:87-93. Epub 2019 Jul 9 doi: 10.1016/j.parkreldis.2019.07.010. PMID: 31307919
Quattrone A, Morelli M, Nigro S, Quattrone A, Vescio B, Arabia G, Nicoletti G, Nisticò R, Salsone M, Novellino F, Barbagallo G, Le Piane E, Pugliese P, Bosco D, Vaccaro MG, Chiriaco C, Sabatini U, Vescio V, Stanà C, Rocca F, Gullà D, Caracciolo M
Parkinsonism Relat Disord 2018 Sep;54:3-8. Epub 2018 Jul 25 doi: 10.1016/j.parkreldis.2018.07.016. PMID: 30068492
Pellicano C, Assogna F, Cellupica N, Piras F, Pierantozzi M, Stefani A, Cerroni R, Mercuri B, Caltagirone C, Pontieri FE, Spalletta G
Parkinsonism Relat Disord 2017 Dec;45:50-56. Epub 2017 Oct 6 doi: 10.1016/j.parkreldis.2017.10.002. PMID: 29037499
Srulijes K, Reimold M, Liscic RM, Bauer S, Dietzel E, Liepelt-Scarfone I, Berg D, Maetzler W
Mov Disord 2012 Jan;27(1):151-5. doi: 10.1002/mds.23975. PMID: 22359740
Srulijes K, Mallien G, Bauer S, Dietzel E, Gröger A, Ebersbach G, Berg D, Maetzler W
J Neural Transm (Vienna) 2011 Aug;118(8):1191-7. Epub 2011 Jan 5 doi: 10.1007/s00702-010-0563-8. PMID: 21207078

Diagnosis

Necpál J, Borsek M, Jeleňová B
Neurol Sci 2021 Dec;42(12):4927-4936. Epub 2021 Sep 17 doi: 10.1007/s10072-021-05601-8. PMID: 34532773
Miki Y, Tsushima E, Foti SC, Strand KM, Asi YT, Yamamoto AK, Bettencourt C, Oliveira MCB, De Pablo-Fernández E, Jaunmuktane Z, Lees AJ, Wakabayashi K, Warner TT, Quinn N, Holton JL, Ling H
Brain 2021 May 7;144(4):1138-1151. doi: 10.1093/brain/awab017. PMID: 33822892Free PMC Article
Seki M, Seppi K, Mueller C, Potrusil T, Goebel G, Reiter E, Nocker M, Steiger R, Wildauer M, Gizewski ER, Wenning GK, Poewe W, Scherfler C
Parkinsonism Relat Disord 2018 Apr;49:81-87. Epub 2018 Feb 7 doi: 10.1016/j.parkreldis.2018.02.004. PMID: 29463454
Pellicano C, Assogna F, Cellupica N, Piras F, Pierantozzi M, Stefani A, Cerroni R, Mercuri B, Caltagirone C, Pontieri FE, Spalletta G
Parkinsonism Relat Disord 2017 Dec;45:50-56. Epub 2017 Oct 6 doi: 10.1016/j.parkreldis.2017.10.002. PMID: 29037499
Srulijes K, Reimold M, Liscic RM, Bauer S, Dietzel E, Liepelt-Scarfone I, Berg D, Maetzler W
Mov Disord 2012 Jan;27(1):151-5. doi: 10.1002/mds.23975. PMID: 22359740

Therapy

Quattrone A, Sarica A, Buonocore J, Morelli M, Bianco MG, Calomino C, Aracri F, De Maria M, Vescio B, Vaccaro MG, Quattrone A
J Neurol 2023 Nov;270(11):5502-5515. Epub 2023 Jul 29 doi: 10.1007/s00415-023-11892-y. PMID: 37507502Free PMC Article
Shoeibi A, Litvan I, Tolosa E, Ser TD, Lee E; TAUROS Investigators
Parkinsonism Relat Disord 2019 Sep;66:87-93. Epub 2019 Jul 9 doi: 10.1016/j.parkreldis.2019.07.010. PMID: 31307919
Lin WY, Lin KJ, Weng YH, Yen TC, Shen LH, Liao MH, Lu CS
Nucl Med Commun 2010 Nov;31(11):974-80. doi: 10.1097/MNM.0b013e32833e5f90. PMID: 20717064

Prognosis

Necpál J, Borsek M, Jeleňová B
Neurol Sci 2021 Dec;42(12):4927-4936. Epub 2021 Sep 17 doi: 10.1007/s10072-021-05601-8. PMID: 34532773
Shoeibi A, Litvan I, Tolosa E, Ser TD, Lee E; TAUROS Investigators
Parkinsonism Relat Disord 2019 Sep;66:87-93. Epub 2019 Jul 9 doi: 10.1016/j.parkreldis.2019.07.010. PMID: 31307919
Pellicano C, Assogna F, Cellupica N, Piras F, Pierantozzi M, Stefani A, Cerroni R, Mercuri B, Caltagirone C, Pontieri FE, Spalletta G
Parkinsonism Relat Disord 2017 Dec;45:50-56. Epub 2017 Oct 6 doi: 10.1016/j.parkreldis.2017.10.002. PMID: 29037499
Hwang M, Yang H, Kim Y, Youn J, Park J, Huh YE, Kim HT, Cho JW
Neurodegener Dis 2017;17(1):31-37. Epub 2016 Sep 10 doi: 10.1159/000448174. PMID: 27614955
Srulijes K, Mallien G, Bauer S, Dietzel E, Gröger A, Ebersbach G, Berg D, Maetzler W
J Neural Transm (Vienna) 2011 Aug;118(8):1191-7. Epub 2011 Jan 5 doi: 10.1007/s00702-010-0563-8. PMID: 21207078

Clinical prediction guides

Miki Y, Tsushima E, Foti SC, Strand KM, Asi YT, Yamamoto AK, Bettencourt C, Oliveira MCB, De Pablo-Fernández E, Jaunmuktane Z, Lees AJ, Wakabayashi K, Warner TT, Quinn N, Holton JL, Ling H
Brain 2021 May 7;144(4):1138-1151. doi: 10.1093/brain/awab017. PMID: 33822892Free PMC Article
Shoeibi A, Litvan I, Tolosa E, Ser TD, Lee E; TAUROS Investigators
Parkinsonism Relat Disord 2019 Sep;66:87-93. Epub 2019 Jul 9 doi: 10.1016/j.parkreldis.2019.07.010. PMID: 31307919
Seki M, Seppi K, Mueller C, Potrusil T, Goebel G, Reiter E, Nocker M, Steiger R, Wildauer M, Gizewski ER, Wenning GK, Poewe W, Scherfler C
Parkinsonism Relat Disord 2018 Apr;49:81-87. Epub 2018 Feb 7 doi: 10.1016/j.parkreldis.2018.02.004. PMID: 29463454
Pellicano C, Assogna F, Cellupica N, Piras F, Pierantozzi M, Stefani A, Cerroni R, Mercuri B, Caltagirone C, Pontieri FE, Spalletta G
Parkinsonism Relat Disord 2017 Dec;45:50-56. Epub 2017 Oct 6 doi: 10.1016/j.parkreldis.2017.10.002. PMID: 29037499
Williams DR, Holton JL, Strand C, Pittman A, de Silva R, Lees AJ, Revesz T
Brain 2007 Jun;130(Pt 6):1566-76. doi: 10.1093/brain/awm104. PMID: 17525140

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