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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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, Spinal cord, Pons, Cerebellum, Globus pallidus, Subthalamic nucleus, B cells, Testes, Colon, Skeletal muscle, Medulla oblongata

Animal Models for Progressive Supranuclear Palsy or affiliated genes

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36MGI
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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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50PubMed
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Articles related to Progressive Supranuclear Palsy:

(show top 50)    (show all 653)
idTitleAuthorsYear
1
Electrophysiological features of lower motor neuron involvement in progressive supranuclear palsy. (23146616)
2013
2
Atypical progressive supranuclear palsy presenting as primary lateral sclerosis. (23570981)
2013
3
Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy. (23635960)
2013
4
Transcranial brain sonography findings in two main variants of progressive supranuclear palsy. (23173978)
2013
5
Cortical limb myoclonus in pathologically proven progressive supranuclear palsy. (24123159)
2013
6
Intrinsic connectivity network disruption in progressive supranuclear palsy. (23536287)
2013
7
Toward magnetic resonance imaging biomarkers for progressive supranuclear palsy and multisystem atrophy. (23283652)
2012
8
Midcingulate involvement in progressive supranuclear palsy and tau positive frontotemporal dementia. (22733085)
2012
9
Sad and happy facial emotion recognition impairment in progressive supranuclear palsy in comparison with Parkinson's disease. (22595619)
2012
10
Direction specific preserved limits of stability in early progressive supranuclear palsy: a dynamic posturographic study. (22225854)
2012
11
Significance of apparent diffusion coefficient measurement for the differential diagnosis of multiple system atrophy, progressive supranuclear palsy, and Parkinson's disease: evaluation by 3.0-T MR imaging. (22274571)
2012
12
Cortical atrophy differentiates Richardson's syndrome from the parkinsonian form of progressive supranuclear palsy. (21412832)
2011
13
Hyposmia in progressive supranuclear palsy. (20209627)
2010
14
In vivo demonstration of microstructural brain pathology in progressive supranuclear palsy: a DTI study using TBSS. (20222139)
2010
15
The use of zolpidem in the treatment of progressive supranuclear palsy. (20071178)
2010
16
Progressive supranuclear palsy: new concepts. (21243256)
2010
17
Pattern of Tau forms in CSF is altered in progressive supranuclear palsy. (17709155)
2009
18
Pain in progressive supranuclear palsy. (19483485)
2009
19
Progressive supranuclear palsy: a review of co-existing neurodegeneration. (19235444)
2008
20
MR imaging of brainstem atrophy in progressive supranuclear palsy. (18080856)
2008
21
Orthostatic tremor in progressive supranuclear palsy. (17415760)
2007
22
Striopallidodentate calcification and progressive supranuclear palsy-like phenotype in a patient with idiopathic hypoparathyroidism. (19513345)
2007
23
Loss of insight in frontotemporal dementia, corticobasal degeneration and progressive supranuclear palsy. (17347257)
2007
24
Muscarinic receptors in the thalamus in progressive supranuclear palsy and other neurodegenerative disorders. (17483697)
2007
25
Shunt responsive progressive supranuclear palsy? (17357140)
2007
26
Lrrk2 R1441 substitution and progressive supranuclear palsy. (16409550)
2006
27
Aging and oxidative stress in progressive supranuclear palsy. (16420399)
2006
28
Natural history of progressive supranuclear palsy: a clinicopathologic study from a population of brain donors. (16015014)
2005
29
Progressive supranuclear palsy-like phenotype associated with bilateral hypoxic-ischemic striopallidal lesions. (15782420)
2005
30
Late-onset frontotemporal dementia associated with progressive supranuclear palsy/argyrophilic grain disease/Alzheimer's disease pathology. (16006341)
2005
31
Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. (15293277)
2004
32
Failure in heat-shock protein expression in response to UBB+1 protein in progressive supranuclear palsy in humans. (15050720)
2004
33
Orofacial apraxia in corticobasal degeneration, progressive supranuclear palsy, multiple system atrophy and Parkinson's disease. (15592726)
2004
34
Midbrain hypometabolism as early diagnostic sign for progressive supranuclear palsy. (15242422)
2004
35
Distal-proximal differences in limb apraxia in corticobasal degeneration but not progressive supranuclear palsy. (14598093)
2003
36
123I-Ioflupane/SPECT binding to striatal dopamine transporter (DAT) uptake in patients with Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. (14598060)
2003
37
Tau accumulation in astrocytes in progressive supranuclear palsy is a degenerative rather than a reactive process. (12200627)
2002
38
Intracellular processing of aggregated tau differs between corticobasal degeneration and progressive supranuclear palsy. (11303763)
2001
39
Diagnostic significance of tau protein in cerebrospinal fluid from patients with corticobasal degeneration or progressive supranuclear palsy. (11166802)
2001
40
Strong association of a novel Tau promoter haplotype in progressive supranuclear palsy. (11578815)
2001
41
Familial atypical progressive supranuclear palsy associated with homozygosity for the delN296 mutation in the tau gene. (11220749)
2001
42
Progressive supranuclear palsy: earlier age of onset in patients with the tau protein A0/A0 genotype. (10787116)
2000
43
Longitudinal ocular motor study in corticobasal degeneration and progressive supranuclear palsy. (10720270)
2000
44
Association of an extended haplotype in the tau gene with progressive supranuclear palsy. (10072441)
1999
45
Direct genetic evidence for involvement of tau in progressive supranuclear palsy. European Study Group on Atypical Parkinsonism Consortium. (9781517)
1998
46
Astrocytic plaques and tufts of abnormal fibers do not coexist in corticobasal degeneration and progressive supranuclear palsy. (9797005)
1998
47
Corticobasal degeneration: a disease with widespread appearance of abnormal tau and neurofibrillary tangles, and its relation to progressive supranuclear palsy. (7985491)
1994
48
An autopsy case of postencephalitic parkinsonism: investigation on neurofibrillary tangles in comparison with those in progressive supranuclear palsy]. (2169789)
1990
49
Severe cerebral atrophy in progressive supranuclear palsy: a case report. (2776386)
1989
50
Limb dystonia in progressive supranuclear palsy. (3627456)
1987

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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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
3eburnamonine2810.8CHRM1, CHRM4
4oxotremorine-m2810.8CHRM1, CHRM4
5mcn-a-3432810.8CHRM4, CHRM1
6win 51,7082810.8CHRM4, CHRM1
7vincamine2810.8CHRM4, CHRM1
8arecaidine propargyl ester2810.8CHRM4, CHRM1
9thiochrome2810.8CHRM4, CHRM1
10alcuronium2810.8CHRM4, CHRM1
11milameline2810.8CHRM1, CHRM4
12gö 78742810.8CHRM1, CHRM4
13Hyoscyamine1110.8CHRM4, CHRM1
14Procyclidine1110.8CHRM4, CHRM1
15tropicamide44 59 1112.8CHRM4, CHRM1
16nmda44 2811.8RPS27A, PVALB, MAPT, HCRT
17furmethide2810.8CHRM4, CHRM1
18methylfurmethide2810.8CHRM4, CHRM1
19carbachol44 28 1112.8MAPT, CHRM1, CHRM4, HCRT
20win 62,5772810.8CHRM4, CHRM1
21sabcomeline2810.8CHRM4, CHRM1
22pentylthio-tztp2810.8CHRM4, CHRM1
23propantheline28 1111.8CHRM1, CHRM4
24brucine n-oxide2810.8CHRM4, CHRM1
25[3h]n-methyl scopolamine2810.8CHRM1, CHRM4
26n-chloromethyl-brucine2810.8CHRM4, CHRM1
27n-benzyl brucine2810.8CHRM4, CHRM1
28[3h]qnb2810.8CHRM4, CHRM1
29thioflavine s4410.7MAPT, RPS27A
304-damp59 2811.7CHRM4, CHRM1
31Metixene1110.7CHRM4, CHRM1
32acetylcholine44 49 28 11 2414.7CHRM1, RPS27A, PVALB, HCRT, MAPT, CHRM4
33Trihexyphenidyl1110.7CHRM4, CHRM1
34Cryptenamine1110.7CHRM4, CHRM1
35Homatropine Methylbromide1110.7CHRM4, CHRM1
36(+)aceclidine2810.7CHRM1, CHRM4
37ipratropium2810.7CHRM1, CHRM4
38nnc 11-13142810.7CHRM4, CHRM1
39(-)aceclidine2810.7CHRM4, CHRM1
40afdx3842810.6CHRM1, CHRM4
41mt32810.6CHRM1, CHRM4
42af-dx 11628 5911.6CHRM1, CHRM4
43vu02550352810.6CHRM1, CHRM4
44p-f-hhsid2810.6CHRM4, CHRM1
45nnc 11-15852810.5CHRM1, CHRM4
46mt72810.5CHRM4, CHRM1
47nnc 11-16072810.4CHRM1, CHRM4
48arecoline44 28 1112.4CHRM4, CHRM1
49hhsid2810.3CHRM1, CHRM4
50himbacine28 4411.1CHRM1, CHRM4

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