PSP
MCID: PRG006
MIFTS: 70

Progressive Supranuclear Palsy (PSP) malady

Neuronal diseases, Eye diseases, Genetic diseases categories

Summaries for Progressive Supranuclear Palsy

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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 multiple system atrophy. 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 brain, eye 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:42 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:43 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:63 Progressive supranuclear palsy (PSP) (or the Steele-Richardson-Olszewski syndrome, after the Canadian... more...

Description from OMIM:46 601104,609454,610898

Aliases & Classifications for Progressive Supranuclear Palsy

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 10DISEASES, 33MedlinePlus, 60UMLS, 22GTR, 9diseasecard, 46OMIM, 44Novoseek, 48Orphanet, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
classical progressive supranuclear palsy:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

progressive supranuclear palsy 8 42 21 43 10 33 60
supranuclear palsy, progressive 9 42 21 46
progressive supranuclear ophthalmoplegia 8 22 21
steele-richardson-olszewski syndrome 42 21 43
familial progressive supranuclear palsy 42 60
psp 42 21
classical progressive supranuclear palsy 48
steele-richardson-olszewski disease 48
supranuclear palsy progressive 44
richardson's syndrome 21
richardson syndrome 48
classical psp 48


External Ids:

Disease Ontology8 DOID:678
NCIt39 C85028
MeSH34 D013494
ICD10 via Orphanet26 G23.1
ICD1025 G23.1

Related Diseases for Progressive Supranuclear Palsy

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Progressive Supranuclear Palsy family:

Progressive Supranuclear Palsy, Mapt-Related 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 95)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease31.6RPS27A, MAPT
2multiple system atrophy31.5RPS27A, PVALB, MAPT
3dementia31.3RPS27A, PVALB, STH, CHRM1, MAPT, HCRT
4alzheimer's disease31.1RPS27A, PVALB, STH, NEFL, CHRM1, MAPT
5frontotemporal dementia31.1MAPT, STH, RPS27A
6pick's disease31.0MAPT, RPS27A
7tauopathy30.9RPS27A, STH, MAPT
8amyotrophic lateral sclerosis30.6RPS27A, PVALB, NEFL, MAPT
9normal pressure hydrocephalus30.5HCRT, MAPT
10motor neuron disease30.5RPS27A, PVALB, MAPT
11niemann-pick disease30.2MAPT, HCRT
12cerebritis10.7
13neuronitis10.7
14cerebral palsy10.7
15apraxia10.7
16brain disease10.7
17aphasia10.6
18lateral sclerosis10.6
19striatonigral degeneration10.6
20ophthalmoplegia10.6
21progressive supranuclear palsy atypical10.5
22internuclear ophthalmoplegia10.5
23basal ganglia disease10.5
24cerebral degeneration10.5
25sleep disorder10.5
26feigenbaum bergeron richardson syndrome10.4
27rem sleep behavior disorder10.4
28cerebellar ataxia10.4
29cerebellar disease10.4
30cervicitis10.4
31hypertension10.4
32progressive supranuclear palsy - progressive non fluent aphasia10.4
33lewy body dementia10.3
34hydrocephalus10.3
35movement disease10.3
36progressive supranuclear palsy, mapt-related10.3
37supranuclear palsy, progressive, 210.3
38supranuclear palsy, progressive, 310.3
39progressive supranuclear palsy - corticobasal syndrome10.3
40progressive supranuclear palsy - pure akinesia with gait freezing10.3
41leopard syndrome10.2
42atherosclerosis - deafness - diabetes - epilepsy - nephropathy10.2
43wrinkles10.2
44corneal disease10.2
45postencephalitic parkinson disease10.2
46subclavian steal syndrome10.2
47antiphospholipid syndrome10.2
48major depressive disorder10.2
49essential tremor10.2
50hypoparathyroidism10.2

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



Diseases related to progressive supranuclear palsy

Clinical Features for Progressive Supranuclear Palsy

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46OMIM
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Clinical features from OMIM:

601104,609454,610898

Clinical synopsis from OMIM:

601104

Drugs & Therapeutics for Progressive Supranuclear Palsy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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22GTR
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Genetic tests related to Progressive Supranuclear Palsy:

id Genetic test Affiliating Genes
1 Progressive Supranuclear Ophthalmoplegia22

Anatomical Context for Progressive Supranuclear Palsy

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32MalaCards
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MalaCards organs/tissues related to Progressive Supranuclear Palsy:

32
Brain, Eye, Cortex, Thalamus, Pons, Spinal cord, Cerebellum, Globus pallidus, Subthalamic nucleus, Testes, Colon, B cells, Skeletal muscle, Medulla oblongata

Animal Models for Progressive Supranuclear Palsy or affiliated genes

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36MGI
See all sources

MGI Mouse Phenotypes related to Progressive Supranuclear Palsy:

36
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

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Sources:
50PubMed
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Articles related to Progressive Supranuclear Palsy:

(show top 50)    (show all 653)
idTitleAuthorsYear
1
Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant. (23432126)
2014
2
Midbrain atrophy is not a biomarker of progressive supranuclear palsy pathology. (23746093)
2013
3
PET imaging of neuropathology in tauopathies: progressive supranuclear palsy. (23579330)
2013
4
Neuropsychiatry of corticobasal degeneration and progressive supranuclear palsy. (23611349)
2013
5
Progressive supranuclear palsy. (23965099)
2013
6
Longitudinal quantitative MRI in multiple system atrophy and progressive supranuclear palsy. (24239142)
2013
7
Progressive supranuclear palsy misdiagnosed as Parkinson's disease: a case report and review of literature. (24349849)
2013
8
Thalamic hypoperfusion in early stage of progressive supranuclear palsy (Richardson's syndrome): report of an autopsy-confirmed case. (24075472)
2013
9
Abnormal cortical synaptic plasticity in primary motor area in progressive supranuclear palsy. (21677027)
2012
10
Reply to "Diagnosis of progressive supranuclear palsy: can measurement of tau forms help?". (21550139)
2012
11
Validation of mobile eye-tracking as novel and efficient means for differentiating progressive supranuclear palsy from Parkinson's disease. (23248593)
2012
12
Acoustical analysis of speech in progressive supranuclear palsy. (20457507)
2011
13
Tau forms in CSF as a reliable biomarker for progressive supranuclear palsy. (21502610)
2011
14
Selective frontal neurodegeneration of the inferior fronto-occipital fasciculus in progressive supranuclear palsy (PSP) demonstrated by diffusion tensor tractography. (21269463)
2011
15
Cerebellar involvement in progressive supranuclear palsy. (20222135)
2010
16
The Small Heat Shock Protein HSP25/27 (HspB1) Is Abundant in Cultured Astrocytes and Associated with Astrocytic Pathology in Progressive Supranuclear Palsy and Corticobasal Degeneration. (20150973)
2010
17
Phosphorylated TDP-43 pathology and hippocampal sclerosis in progressive supranuclear palsy. (20512649)
2010
18
Familial aggregation of parkinsonism in progressive supranuclear palsy. (19458322)
2009
19
Major depressive disorder preceding the onset of progressive supranuclear palsy. (20046384)
2009
20
Diffusion tensor imaging shows different topographic involvement of the thalamus in progressive supranuclear palsy and corticobasal degeneration. (19589886)
2009
21
Astrocytic tau pathology positively correlates with neurofibrillary tangle density in progressive supranuclear palsy. (18427815)
2008
22
Diffusion tensor analysis of corpus callosum in progressive supranuclear palsy. (18779957)
2008
23
Control of vertical components of gait during initiation of walking in normal adults and patients with progressive supranuclear palsy. (17126017)
2007
24
Frontal presentation in progressive supranuclear palsy. (17709703)
2007
25
Clinical assessment of progressive supranuclear palsy over time: new rating scale validated. (17712327)
2007
26
Tau and saitohin gene expression pattern in progressive supranuclear palsy. (17320831)
2007
27
Pick's disease with Pick bodies combined with progressive supranuclear palsy without tuft-shaped astrocytes: a clinical, neuroradiologic and pathological study of an autopsied case. (16771179)
2006
28
Atypical progressive supranuclear palsy with corticospinal tract degeneration. (16691120)
2006
29
Non-fluent progressive aphasia, depression, and OCD in a woman with progressive supranuclear palsy: neuroanatomical and neuropathological correlations. (17182396)
2006
30
Characterizing behavioral and cognitive dysexecutive changes in progressive supranuclear palsy. (16200534)
2006
31
Progressive supranuclear palsy: disease profile and rehabilitation strategies. (16737412)
2006
32
Hummingbird and squint eyes in progressive supranuclear palsy. (16946580)
2006
33
Patterns of brain atrophy that differentiate corticobasal degeneration syndrome from progressive supranuclear palsy. (16401739)
2006
34
Paraneoplastic progressive supranuclear palsy syndrome in a patient with B-cell lymphoma. (15823484)
2005
35
Cause, seasonality of death and co-morbidities in progressive supranuclear palsy (PSP). (16154793)
2005
36
Quantitative MRI measurement of superior cerebellar peduncle in progressive supranuclear palsy. (15728291)
2005
37
Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. (14991829)
2004
38
Magnetic resonance imaging-based volumetry differentiates progressive supranuclear palsy from corticobasal degeneration. (14980574)
2004
39
Prevalence of progressive supranuclear palsy in Yonago, Japan. (15390010)
2004
40
Re: Lack of association between progressive supranuclear palsy and arterial hypertension: a clinicopathological study. (15254957)
2004
41
Progressive supranuclear palsy phenotype secondary to CADASIL. (12853237)
2003
42
4-repeat tauopathy sharing pathological and biochemical features of corticobasal degeneration and progressive supranuclear palsy. (12802605)
2003
43
Comparison of striatal dopamine D2 receptors in Parkinson's disease and progressive supranuclear palsy patients using [123I] iodobenzofuran single-photon emission computed tomography. (12380478)
2002
44
Progressive supranuclear palsy with asymmetric tau pathology presenting with unilateral limb dystonia. (12111365)
2002
45
Morphological and biochemical correlations of abnormal tau filaments in progressive supranuclear palsy. (11829342)
2002
46
Effect of ApoE and tau on age of onset of progressive supranuclear palsy and multiple system atrophy. (11595348)
2001
47
Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick's disease, corticobasal degeneration and progressive supranuclear palsy. (11271372)
2001
48
Loss of striatal high affinity NGF binding sites in progressive supranuclear palsy but not in Parkinson's disease. (7891888)
1994
49
Neurotensin receptors in Parkinson's disease and progressive supranuclear palsy: an autoradiographic study in basal ganglia. (1965015)
1990
50
Filamentous aggregates in Pick's disease, progressive supranuclear palsy, and Alzheimer's disease share antigenic determinants with microtubule-associated protein, tau. (2430155)
1986

Genetic Variations for Progressive Supranuclear Palsy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Progressive Supranuclear Palsy:

62
id Symbol AA change Variation ID SNP ID
1MAPTp.Arg5LeuVAR_019661rs63750959
2MAPTp.Gly620ValVAR_037439

Expression for genes affiliated with Progressive Supranuclear Palsy

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome
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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

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Sources:
28IUPHAR, 11DrugBank, 44Novoseek, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to Progressive Supranuclear Palsy according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1mt22810.9CHRM4, CHRM1
2mt12810.9CHRM4, CHRM1
3mcn-a-3432810.8CHRM4, CHRM1
4eburnamonine2810.8CHRM1, CHRM4
5milameline2810.8CHRM1, CHRM4
6oxotremorine-m2810.8CHRM1, CHRM4
7win 51,7082810.8CHRM4, CHRM1
8vincamine2810.8CHRM4, CHRM1
9arecaidine propargyl ester2810.8CHRM4, CHRM1
10alcuronium2810.8CHRM4, CHRM1
11gö 78742810.8CHRM1, CHRM4
12Hyoscyamine1110.8CHRM1, CHRM4
13Procyclidine1110.8CHRM4, CHRM1
14tropicamide44 59 1112.8CHRM4, CHRM1
15furmethide2810.8CHRM4, CHRM1
16nmda44 2811.8PVALB, MAPT, HCRT, RPS27A
17thiochrome2810.8CHRM4, CHRM1
18methylfurmethide2810.8CHRM4, CHRM1
19carbachol44 28 1112.8CHRM4, MAPT, HCRT, CHRM1
20win 62,5772810.8CHRM4, CHRM1
21pentylthio-tztp2810.8CHRM1, CHRM4
22propantheline28 1111.8CHRM1, CHRM4
23sabcomeline2810.8CHRM1, CHRM4
24[3h]n-methyl scopolamine2810.8CHRM1, CHRM4
25brucine n-oxide2810.8CHRM4, CHRM1
26n-chloromethyl-brucine2810.8CHRM4, CHRM1
27thioflavine s4410.8MAPT, RPS27A
28n-benzyl brucine2810.8CHRM4, CHRM1
29[3h]qnb2810.8CHRM4, CHRM1
30Metixene1110.7CHRM1, CHRM4
31acetylcholine44 49 28 11 2414.7CHRM1, RPS27A, PVALB, CHRM4, MAPT, HCRT
32Trihexyphenidyl1110.7CHRM4, CHRM1
334-damp59 2811.7CHRM1, CHRM4
34Cryptenamine1110.7CHRM4, CHRM1
35Homatropine Methylbromide1110.7CHRM4, CHRM1
36ipratropium2810.7CHRM1, CHRM4
37(-)aceclidine2810.7CHRM1, CHRM4
38afdx3842810.7CHRM1, CHRM4
39af-dx 11628 5911.7CHRM1, CHRM4
40vu02550352810.6CHRM1, CHRM4
41mt32810.6CHRM1, CHRM4
42(+)aceclidine2810.6CHRM4, CHRM1
43nnc 11-13142810.6CHRM4, CHRM1
44nnc 11-15852810.6CHRM1, CHRM4
45mt72810.5CHRM4, CHRM1
46nnc 11-16072810.5CHRM1, CHRM4
47hhsid2810.4CHRM1, CHRM4
48Solifenacin1110.4CHRM4, CHRM1
49p-f-hhsid2810.3CHRM1, CHRM4
50Benzquinamide1110.1CHRM4, CHRM1

GO Terms for genes affiliated with Progressive Supranuclear Palsy

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16Gene Ontology
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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

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Sources for Progressive Supranuclear Palsy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet