PSP
MCID: PRG006
MIFTS: 63

Progressive Supranuclear Palsy (PSP) malady

Neuronal, Eye, Genetic categories

Summaries for Progressive Supranuclear Palsy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MedlinePlus:34 Progressive supranuclear palsy (psp) is a rare brain disease. it affects brain cells that control the movement of your eyes. this leads to serious and permanent problems with balance and the way you walk. it usually occurs in middle-aged or elderly people. symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. doctors sometimes confuse psp with parkinson's disease or alzheimer's disease. psp has no cure and no effective treatments. walking aids, special glasses and certain medicines might help somewhat. although the disease gets worse over time, it isn't fatal on its own. however, psp is dangerous because it increases your risk of pneumonia and choking from swallowing problems and injuries from falling. nih: national institute of neurological disorders and stroke

MalaCards: Progressive Supranuclear Palsy, also known as supranuclear palsy, progressive, is related to parkinson's disease and alzheimer's disease. An important gene associated with Progressive Supranuclear Palsy is MAPT (microtubule-associated protein tau), and among its related pathways is Muscarinic acetylcholine receptors. The compounds mt2 and mt1 have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and cortex, and related mouse phenotypes are normal and nervous system.

Genetics Home Reference:21 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.

NIH Rare Diseases:43 Progressive supranuclear palsy is a movement disorder caused by damage to certain nerve cells in the brain. it affects brain cells that control the movement of the eyes. this leads to serious and permanent problems with balance and the way affected individuals walk. it usually occurs in middle-aged or elderly people. symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. doctors sometimes confuse progressive supranuclear palsy with parkinson's disease or alzheimer's disease. progressive supranuclear palsy has no cure and no effective treatments. in most cases, the genetic cause of this condition is unknown. rarely, the disease results from mutations in the mapt gene.  last updated: 8/18/2011

NINDS:44 Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some individuals describe this effect as a blurring. Affected individuals

Wikipedia:64 Progressive supranuclear palsy (PSP) (or the Steele-Richardson-Olszewski syndrome, after the Canadian... more...

Description from OMIM:47 601104,609454,610898

Aliases & Classifications for Progressive Supranuclear Palsy

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Neuronal, Eye


Characteristics (Orphanet epidemiological data):

49
classical progressive supranuclear palsy:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

progressive supranuclear palsy 8 43 21 44 10 34 61
supranuclear palsy, progressive 9 43 21 47
progressive supranuclear ophthalmoplegia 8 22 21
steele-richardson-olszewski syndrome 43 21 44
familial progressive supranuclear palsy 43 61
psp 43 21
classical progressive supranuclear palsy 49
steele-richardson-olszewski disease 49
supranuclear palsy progressive 45
richardson's syndrome 21
richardson syndrome 49
classical psp 49


External Ids:

Disease Ontology8 DOID:678
NCIt40 C85028
MeSH35 D013494
ICD10 via Orphanet26 G23.1
ICD1025 G23.1

Related Diseases for Progressive Supranuclear Palsy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Progressive Supranuclear Palsy family:

supranuclear palsy, progressive, 2 supranuclear palsy, progressive, 3

Diseases related to Progressive Supranuclear Palsy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease31.7RPS27A, MAPT
2alzheimer's disease31.2NEFL, RPS27A, CHRM1, PVALB, MAPT, HCRT
3frontotemporal dementia31.2MAPT, RPS27A, STH
4pick's disease31.1MAPT, RPS27A
5tauopathy30.7MAPT, STH, RPS27A
6primary progressive aphasia30.6RPS27A, MAPT
7amyotrophic lateral sclerosis30.6PVALB, RPS27A, MAPT, NEFL
8normal pressure hydrocephalus30.5HCRT, MAPT
9niemann-pick disease30.3MAPT, HCRT
10corticobasal degeneration11.2
11progressive supranuclear palsy atypical10.8
12brain disease10.8
13apraxia10.7
14progressive supranuclear palsy - corticobasal syndrome10.7
15n syndrome10.7
16aphasia10.6
17lateral sclerosis10.6
18striatonigral degeneration10.6
19internuclear ophthalmoplegia10.5
20basal ganglia disease10.5
21sleep disorder10.5
22feigenbaum bergeron richardson syndrome10.4
23char syndrome10.4
24supranuclear ocular palsy10.4
25ataxia10.4
26cerebral atrophy10.4
27parkinson disease 110.4
28parkinson disease 1210.4
29progressive supranuclear palsy - progressive non fluent aphasia10.4
30limb dystonia10.3
31progressive supranuclear palsy, mapt-related10.3
32dysphagia10.3
33myoclonus10.3
34tremor10.3
35progressive supranuclear palsy - pure akinesia with gait freezing10.3
36argyrophilic grain disease10.3
37leopard syndrome10.2
38atherosclerosis - deafness - diabetes - epilepsy - nephropathy10.2
39corneal disease10.2
40postencephalitic parkinson disease10.2
41subclavian steal syndrome10.2
42antiphospholipid syndrome10.2
43major depressive disorder10.2
44essential tremor10.2
45hypoparathyroidism10.2
46cadasil10.2
47blepharospasm10.2
48cerebral amyloid angiopathy10.2
49whipple disease10.2
50pseudobulbar palsy10.2

Graphical network of the top 20 diseases related to Progressive Supranuclear Palsy:



Diseases related to progressive supranuclear palsy

Clinical Features for Progressive Supranuclear Palsy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

601104,609454,610898

Clinical synopsis from OMIM:

601104

Drugs & Therapeutics for Progressive Supranuclear Palsy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Progressive Supranuclear Palsy

Drug clinical trials:

Search ClinicalTrials for Progressive Supranuclear Palsy

Search NIH Clinical Center for Progressive Supranuclear Palsy

Search CenterWatch for Progressive Supranuclear Palsy

Genetic Tests for Progressive Supranuclear Palsy

Sources:
22GTR
See all sources

Genetic tests related to Progressive Supranuclear Palsy:

id Genetic test Affiliating Genes
1 Progressive Supranuclear Ophthalmoplegia22

Anatomical Context for Progressive Supranuclear Palsy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Progressive Supranuclear Palsy:

33
Spinal cord, Brain, Cortex, Cerebellum, Smooth muscle, Skeletal muscle, Small intestine, Colon, T cells, B cells, Cingulate cortex, Temporal lobe, Occipital lobe, Cerebellum peduncles, Globus pallidus, Thalamus, Subthalamic nucleus, Pons, Medulla oblongata, Adrenal cortex

Animal Models for Progressive Supranuclear Palsy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Progressive Supranuclear Palsy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000287310.2NEFL, VEGFA, MAPT, HIST1H1E, WNT3, IL21
2MP:00036319.9ACP2, PVALB, NEFL, CHRM4, CHRM1, VEGFA

Publications for Progressive Supranuclear Palsy

Sources:
51PubMed
See all sources

Articles related to Progressive Supranuclear Palsy:

(show top 50)    (show all 654)
idTitleAuthorsYear
1
Behavioral abnormalities in progressive supranuclear palsy. (24035530)
2013
2
Magnetic resonance support vector machine discriminates between Parkinson disease and progressive supranuclear palsy. (24323617)
2013
3
MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy. (23180183)
2013
4
Autopsy-proven progressive supranuclear palsy presenting as behavioral variant frontotemporal dementia. (22181323)
2012
5
Limbic and nigral Lewy bodies and Alzheimer's disease pathology mimicking progressive supranuclear palsy in a 75-year-old man with preserved cardiac uptake of MIBG. (22886008)
2012
6
Primary lateral sclerosis as progressive supranuclear palsy: diagnosis by diffusion tensor imaging. (22517038)
2012
7
Supranuclear gaze palsy in glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus. (23129530)
2012
8
Diagnosis of progressive supranuclear palsy: can measurement of tau forms help? (20947213)
2012
9
Progressive supranuclear palsy-like phenotype caused by progranulin p.Thr272fs mutation. (21542024)
2011
10
Cytokine expression and microglial activation in progressive supranuclear palsy. (21741294)
2011
11
Microstructural changes in patients with progressive supranuclear palsy: a diffusion tensor imaging study. (20578012)
2010
12
Impulsive-compulsive spectrum behaviors in pathologically confirmed progressive supranuclear palsy. (20213825)
2010
13
Endoscopic characteristics and levodopa responsiveness of swallowing function in progressive supranuclear palsy. (20629130)
2010
14
Emotion recognition in progressive supranuclear palsy. (19762901)
2009
15
Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease. (19720723)
2009
16
Improvement of gaze control after balance and eye movement training in patients with progressive supranuclear palsy: a quasi-randomized controlled trial. (19236979)
2009
17
The core body temperature rhythm is altered in progressive supranuclear palsy. (19224326)
2009
18
Parkin polymorphisms in progressive supranuclear palsy. (18022644)
2008
19
The basal ganglia cholinergic neurochemistry of progressive supranuclear palsy and other neurodegenerative diseases. (17178818)
2007
20
Widespread spinal cord involvement in progressive supranuclear palsy. (17899686)
2007
21
Long-term locomotor training for gait and balance in a patient with mixed progressive supranuclear palsy and corticobasal degeneration. (17578939)
2007
22
Laryngeal dystonia causing upper airway obstruction in progressive supranuclear palsy. (16597502)
2007
23
Progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): a short historical review. (17848869)
2007
24
In vivo imaging of microglial activation with [11C](R)-PK11195 PET in progressive supranuclear palsy. (16108021)
2006
25
Progressive supranuclear palsy. (17167893)
2006
26
Lewy bodies in progressive supranuclear palsy represent an independent disease process. (16691119)
2006
27
Are frontotemporal lobar degeneration, progressive supranuclear palsy and corticobasal degeneration distinct diseases? (17117169)
2006
28
The relationship between histopathological features of progressive supranuclear palsy and disease duration. (16337422)
2006
29
Anesthetic management of a patient with progressive supranuclear palsy. (17072698)
2006
30
Bilateral internuclear ophthalmoplegia in progressive supranuclear palsy with an overriding oculocephalic maneuver. (15858806)
2005
31
The structure of the tau haplotype in controls and in progressive supranuclear palsy. (15115761)
2004
32
Progressive supranuclear palsy. (15282366)
2004
33
Identification of amino-terminally cleaved tau fragments that distinguish progressive supranuclear palsy from corticobasal degeneration. (14705114)
2004
34
Transglutaminase activity, protein, and mRNA expression are increased in progressive supranuclear palsy. (12578227)
2003
35
Cerebral amyloid angiopathy and motor neurone disease presenting with a progressive supranuclear palsy-like syndrome. (12621639)
2003
36
Progressive supranuclear palsy. (14584237)
2003
37
Substantia nigra in progressive supranuclear palsy, corticobasal degeneration, and parkinsonism-dementia complex of Guam: specific pathological features. (11305875)
2001
38
Cognitive and magnetic resonance imaging aspects of corticobasal degeneration and progressive supranuclear palsy. (10449111)
1999
39
A human tyrosine hydroxylase isoform associated with progressive supranuclear palsy shows altered enzymatic activity. (9920892)
1999
40
Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. (9708963)
1998
41
Proton magnetic resonance spectroscopic imaging in progressive supranuclear palsy, Parkinson's disease and corticobasal degeneration. (9313638)
1997
42
Normal distribution of apolipoprotein E alleles in progressive supranuclear palsy. (8780111)
1996
43
Neuropathologic overlap of progressive supranuclear palsy, Pick's disease and corticobasal degeneration. (8558172)
1996
44
Neurofibrillary tangles in progressive supranuclear palsy contain the same tau epitopes identified in Alzheimer's disease PHFtau. (8627344)
1996
45
Epitope expression and hyperphosphorylation of tau protein in corticobasal degeneration: differentiation from progressive supranuclear palsy. (7572077)
1995
46
Neuropsychological pattern of striatonigral degeneration: comparison with Parkinson's disease and progressive supranuclear palsy. (7876847)
1995
47
Clinical progressive supranuclear palsy: differential diagnosis by IBZM-SPECT and MRI. (7964681)
1994
48
CSF galanin and neuropeptide Y immunoreactivity in progressive supranuclear palsy. (1384261)
1992
49
Progressive supranuclear palsy: loss of choline-acetyltransferase-like immunoreactive neurons in the pontine reticular formation. (1922800)
1991
50
Neuroacanthocytosis syndrome, apraxia of eyelid opening, and progressive supranuclear palsy. (3748400)
1986

Genetic Variations for Progressive Supranuclear Palsy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Progressive Supranuclear Palsy:

63
id Symbol AA change Variation SNP ID
1MAPTp.Arg5LeuVAR_019661rs63750959
2MAPTp.Gly620ValVAR_037439

Expression for genes affiliated with Progressive Supranuclear Palsy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Progressive Supranuclear Palsy

Search GEO for disease gene expression data for Progressive Supranuclear Palsy.

Pathways for genes affiliated with Progressive Supranuclear Palsy

Sources:
54Reactome
See all sources

Pathways related to Progressive Supranuclear Palsy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4CHRM1, CHRM4

Compounds for genes affiliated with Progressive Supranuclear Palsy

Sources:
29IUPHAR, 11DrugBank, 45Novoseek, 60Tocris Bioscience, 50PharmGKB, 24HMDB
See all sources

Compounds related to Progressive Supranuclear Palsy according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1mt22910.9CHRM4, CHRM1
2mt12910.9CHRM4, CHRM1
3mcn-a-3432910.8CHRM1, CHRM4
4milameline2910.8CHRM1, CHRM4
5eburnamonine2910.8CHRM1, CHRM4
6oxotremorine-m2910.8CHRM1, CHRM4
7win 51,7082910.8CHRM4, CHRM1
8vincamine2910.8CHRM4, CHRM1
9arecaidine propargyl ester2910.8CHRM4, CHRM1
10alcuronium2910.8CHRM4, CHRM1
11gö 78742910.8CHRM1, CHRM4
12Hyoscyamine1110.8CHRM1, CHRM4
13Procyclidine1110.8CHRM4, CHRM1
14tropicamide45 60 1112.8CHRM4, CHRM1
15furmethide2910.8CHRM4, CHRM1
16nmda45 2911.8PVALB, MAPT, HCRT, RPS27A
17thiochrome2910.8CHRM4, CHRM1
18methylfurmethide2910.8CHRM4, CHRM1
19carbachol45 29 1112.8CHRM4, MAPT, HCRT, CHRM1
20win 62,5772910.8CHRM4, CHRM1
21sabcomeline2910.8CHRM4, CHRM1
22propantheline29 1111.8CHRM4, CHRM1
23pentylthio-tztp2910.8CHRM4, CHRM1
24brucine n-oxide2910.8CHRM4, CHRM1
25[3h]n-methyl scopolamine2910.8CHRM4, CHRM1
26Metixene1110.8CHRM1, CHRM4
27n-chloromethyl-brucine2910.8CHRM4, CHRM1
28thioflavine s4510.8MAPT, RPS27A
29n-benzyl brucine2910.8CHRM4, CHRM1
30ipratropium2910.7CHRM1, CHRM4
31[3h]qnb2910.7CHRM4, CHRM1
32acetylcholine45 50 29 11 2414.7CHRM1, RPS27A, PVALB, CHRM4, MAPT, HCRT
33Trihexyphenidyl1110.7CHRM4, CHRM1
344-damp60 2911.7CHRM1, CHRM4
35Cryptenamine1110.7CHRM4, CHRM1
36Homatropine Methylbromide1110.7CHRM4, CHRM1
37nnc 11-15852910.7CHRM1, CHRM4
38nnc 11-13142910.7CHRM4, CHRM1
39afdx3842910.7CHRM1, CHRM4
40af-dx 11629 6011.6CHRM1, CHRM4
41vu02550352910.6CHRM1, CHRM4
42(+)aceclidine2910.6CHRM4, CHRM1
43mt32910.6CHRM1, CHRM4
44(-)aceclidine2910.6CHRM1, CHRM4
45mt72910.5CHRM4, CHRM1
46nnc 11-16072910.5CHRM1, CHRM4
47hhsid2910.4CHRM1, CHRM4
48himbacine29 4511.4CHRM4, CHRM1
49p-f-hhsid2910.3CHRM1, CHRM4
50Benzquinamide1110.1CHRM4, CHRM1

GO Terms for genes affiliated with Progressive Supranuclear Palsy

Sources:
16Gene Ontology
See all sources

Biological processes related to Progressive Supranuclear Palsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled acetylcholine receptor signaling pathwayGO:00721310.4CHRM1, CHRM4
2regulation of locomotionGO:04001210.1CHRM1, CHRM4

Molecular functions related to Progressive Supranuclear Palsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor agonist activityGO:04801810.4WNT3, VEGFA
2G-protein coupled acetylcholine receptor activityGO:01690710.1CHRM1, CHRM4

Products for genes affiliated with Progressive Supranuclear Palsy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressive Supranuclear Palsy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet