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Supranuclear palsy, progressive, 1(PSNP1)

MedGen UID:
1640811
Concept ID:
C4551863
Disease or Syndrome
Synonym: PSNP1
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:0010997
OMIM®: 601104
Orphanet: ORPHA240071

Disease characteristics

Excerpted from the GeneReview: MAPT-Related Frontotemporal Dementia
The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances. [from GeneReviews]
Authors:
Jonathan Rohrer  |  Brigid Ryan  |  Rebekah Ahmed   view full author information

Additional description

From MedlinePlus Genetics
Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.

Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance.

Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze.

Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behavior, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.  https://medlineplus.gov/genetics/condition/progressive-supranuclear-palsy

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Gliosis
MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Mutism
MedGen UID:
6476
Concept ID:
C0026884
Disease or Syndrome
Inability to speak or communicate verbally past the age of typical language development.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Neurofibrillary tangles
MedGen UID:
39273
Concept ID:
C0085400
Finding
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Akinesia
MedGen UID:
43218
Concept ID:
C0085623
Finding
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Apathy
MedGen UID:
39083
Concept ID:
C0085632
Mental or Behavioral Dysfunction
Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Falls
MedGen UID:
39084
Concept ID:
C0085639
Finding
A sudden movement downward, usually resulting in injury.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Memory impairment
MedGen UID:
68579
Concept ID:
C0233794
Mental or Behavioral Dysfunction
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Micrographia
MedGen UID:
66806
Concept ID:
C0240341
Finding
Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.
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.
Granulovacuolar degeneration
MedGen UID:
87168
Concept ID:
C0333454
Pathologic Function
Electron-dense granules within double membrane-bound cytoplasmic vacuoles.
Senile plaques
MedGen UID:
83079
Concept ID:
C0333463
Acquired Abnormality
Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.
Limb dystonia
MedGen UID:
152944
Concept ID:
C0751093
Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Frontal release signs
MedGen UID:
318834
Concept ID:
C1833297
Finding
Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.
Axial dystonia
MedGen UID:
373027
Concept ID:
C1836149
Finding
A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
Gait imbalance
MedGen UID:
373028
Concept ID:
C1836150
Finding
Frontolimbic dementia
MedGen UID:
324447
Concept ID:
C1836151
Finding
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Irritability
MedGen UID:
397841
Concept ID:
C2700617
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Neuronal loss in basal ganglia
MedGen UID:
413431
Concept ID:
C2750913
Finding
A reduction in the number of nerve cells in the basal ganglia.
Astrocytosis
MedGen UID:
854483
Concept ID:
C3887640
Pathologic Function
Proliferation of astrocytes in the area of a lesion of the central nervous system.
Retrocollis
MedGen UID:
854508
Concept ID:
C3887667
Disease or Syndrome
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
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.
Eyelid apraxia
MedGen UID:
222979
Concept ID:
C1142448
Finding
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Blurred vision
MedGen UID:
91020
Concept ID:
C0344232
Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Supranuclear gaze palsy
MedGen UID:
314030
Concept ID:
C1720037
Disease or Syndrome
A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.

Professional guidelines

PubMed

McKeith IG, Ballard CG, Perry RH, Ince PG, O'Brien JT, Neill D, Lowery K, Jaros E, Barber R, Thompson P, Swann A, Fairbairn AF, Perry EK
Neurology 2000 Mar 14;54(5):1050-8. doi: 10.1212/wnl.54.5.1050. PMID: 10720273

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
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
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
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
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

Therapy

Mantle D, Hargreaves IP
Int J Mol Sci 2022 Oct 20;23(20) doi: 10.3390/ijms232012603. PMID: 36293457Free 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
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

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
Cooper YA, Teyssier N, Dräger NM, Guo Q, Davis JE, Sattler SM, Yang Z, Patel A, Wu S, Kosuri S, Coppola G, Kampmann M, Geschwind DH
Science 2022 Aug 19;377(6608):eabi8654. doi: 10.1126/science.abi8654. PMID: 35981026
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
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

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
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
Pahwa R
Med Clin North Am 1999 Mar;83(2):369-79, v-vi. doi: 10.1016/s0025-7125(05)70109-7. PMID: 10093583
Duvoisin RC, Golbe LI, Lepore FE
Can J Neurol Sci 1987 Aug;14(3 Suppl):547-54. PMID: 3315157

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
Respondek G, Kurz C, Arzberger T, Compta Y, Englund E, Ferguson LW, Gelpi E, Giese A, Irwin DJ, Meissner WG, Nilsson C, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Whitwell JL, Antonini A, Bhatia KP, Bordelon Y, Corvol JC, Colosimo C, Dodel R, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris H, Nestor P, Oertel WH, Rabinovici GD, Rowe JB, van Eimeren T, Wenning GK, Boxer A, Golbe LI, Litvan I, Stamelou M, Höglinger GU; Movement Disorder Society-Endorsed PSP Study Group
Mov Disord 2017 Jul;32(7):995-1005. Epub 2017 May 13 doi: 10.1002/mds.27034. PMID: 28500752Free PMC Article
Glasmacher SA, Leigh PN, Saha RA
J Neurol Neurosurg Psychiatry 2017 May;88(5):402-411. Epub 2017 Mar 1 doi: 10.1136/jnnp-2016-314956. PMID: 28250027
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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