PSP
MCID: PRG006
MIFTS: 64

Progressive Supranuclear Palsy (PSP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Progressive Supranuclear Palsy

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43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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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 multiple system atrophy and parkinson's disease. An important gene associated with Progressive Supranuclear Palsy is MAPT (microtubule-associated protein tau), and among its related pathways is Regulation of Hypoxia-inducible Factor (HIF) by Oxygen. The compounds vinorelbine and thioflavine s have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related mouse phenotype nervous system.

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

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.

Wikipedia:65 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

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 10DISEASES, 34MedlinePlus, 62UMLS, 22GTR, 9diseasecard, 47OMIM, 45Novoseek, 49Orphanet, 35MeSH, 58SNOMED-CT, 40NCIt, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


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 62
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 62
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
MeSH35 D013494
NCIt40 C85028
ICD10 via Orphanet26 G23.1
ICD1025 G23.1

Related Diseases for Progressive Supranuclear Palsy

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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 99)
idRelated DiseaseScoreTop Affiliating Genes
1multiple system atrophy31.7MAPT, RPS27A
2parkinson's disease31.6HCRT, STH, RPS27A, MAPT
3dementia31.3HCRT, CHRM1, STH, RPS27A, MAPT
4frontotemporal dementia31.3MAPT, RPS27A, STH
5pick's disease31.1RD3, MAPT, RPS27A
6alzheimer's disease31.1MAPT, RPS27A, STH, CHRM1, HCRT
7tauopathy31.0STH, RPS27A, MAPT
8creutzfeldt-jakob disease30.8MAPT, RPS27A
9primary progressive aphasia30.6MAPT, RPS27A
10normal pressure hydrocephalus30.6MAPT, HCRT
11motor neuron disease30.6MAPT, RPS27A
12niemann-pick disease30.4MAPT, HCRT
13corticobasal degeneration11.2
14neuronitis10.8
15cerebritis10.8
16apraxia10.7
17aphasia10.7
18lateral sclerosis10.6
19striatonigral degeneration10.6
20ophthalmoplegia10.6
21dystonia10.6
22progressive supranuclear palsy atypical10.6
23internuclear ophthalmoplegia10.5
24feigenbaum bergeron richardson syndrome10.4
25amyotrophic lateral sclerosis10.4
26cerebellar ataxia10.4
27cervicitis10.4
28hypertension10.4
29ataxia10.4
30cerebral atrophy10.4
31progressive supranuclear palsy - progressive non fluent aphasia10.4
32progressive supranuclear palsy - corticobasal syndrome10.4
33rem sleep behavior disorder10.4
34hydrocephalus10.4
35limb dystonia10.4
36progressive supranuclear palsy, mapt-related10.4
37dysphagia10.4
38myoclonus10.4
39tremor10.4
40supranuclear palsy, progressive, 210.4
41supranuclear palsy, progressive, 310.4
42progressive supranuclear palsy - pure akinesia with gait freezing10.4
43argyrophilic grain disease10.4
44leopard syndrome10.2
45atherosclerosis - deafness - diabetes - epilepsy - nephropathy10.2
46wrinkles10.2
47major depressive disorder10.2
48oromandibular dystonia10.2
49cerebral amyloid angiopathy10.2
50blepharospasm10.2

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



Diseases related to progressive supranuclear palsy

Symptoms for Progressive Supranuclear Palsy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

601104

Clinical features from OMIM:

601104,609454,610898

Drugs & Therapeutics for Progressive Supranuclear Palsy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Progressive Supranuclear Palsy

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Progressive Supranuclear Palsy:

33
Brain, Eye, Cortex, Thalamus, Pons, Spinal cord, Cerebellum, Globus pallidus, Subthalamic nucleus, Testes, B cells, Colon, Skeletal muscle, Medulla oblongata

Animal Models for Progressive Supranuclear Palsy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Progressive Supranuclear Palsy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1RD3, MAPT, CHRM1, VEGFA, HCRT

Publications for Progressive Supranuclear Palsy

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52PubMed
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Articles related to Progressive Supranuclear Palsy:

(show top 50)    (show all 644)
idTitleAuthorsYear
1
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease. (24252572)
2013
2
Behavioral abnormalities in progressive supranuclear palsy. (24035530)
2013
3
Diffusion tensor tract-specific analysis of the uncinate fasciculus in patients with progressive supranuclear palsy. (23428241)
2013
4
Electrophysiological features of lower motor neuron involvement in progressive supranuclear palsy. (23146616)
2013
5
Spatial patterns of the tau pathology in progressive supranuclear palsy. (22411688)
2013
6
Clinical pain and experimental pain sensitivity in progressive supranuclear palsy. (22130148)
2012
7
Autopsy-proven progressive supranuclear palsy presenting as behavioral variant frontotemporal dementia. (22181323)
2012
8
Toward magnetic resonance imaging biomarkers for progressive supranuclear palsy and multisystem atrophy. (23283652)
2012
9
Genetic bases of Progressive Supranuclear Palsy: the MAPT tau disease. (21568901)
2011
10
Morphometric analysis of subcortical structures in progressive supranuclear palsy: In vivo evidence of neostriatal and mesencephalic atrophy. (21899988)
2011
11
A comparison of changes in proteasomal subunit expression in the substantia nigra in Parkinson's disease, multiple system atrophy and progressive supranuclear palsy. (20176003)
2010
12
Development of a grape seed polyphenolic extract with anti-oligomeric activity as a novel treatment in progressive supranuclear palsy and other tauopathies. (20569300)
2010
13
Cerebellar involvement in progressive supranuclear palsy: A clinicopathological study. (19412943)
2009
14
Birds and penguins in the brainstem of progressive supranuclear palsy patients...and not. (19765052)
2009
15
Gaze control and foot kinematics during stair climbing: characteristics leading to fall risk in progressive supranuclear palsy. (18073265)
2008
16
Astrocytic tau pathology positively correlates with neurofibrillary tangle density in progressive supranuclear palsy. (18427815)
2008
17
J. Clifford Richardson and 50 years of progressive supranuclear palsy. (18268249)
2008
18
Control of vertical components of gait during initiation of walking in normal adults and patients with progressive supranuclear palsy. (17126017)
2007
19
Co-occurrence of radiological features of progressive supranuclear palsy and corticobasal degeneration. (17272907)
2007
20
Pupil diameter in darkness differentiates progressive supranuclear palsy (PSP) from other extrapyramidal syndromes. (17853484)
2007
21
Progressive supranuclear palsy. (18808956)
2007
22
Lrrk2 R1441 substitution and progressive supranuclear palsy. (16409550)
2006
23
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
24
Atypical progressive supranuclear palsy with corticospinal tract degeneration. (16691120)
2006
25
Unexpected abundance of pathological tau in progressive supranuclear palsy white matter. (16823854)
2006
26
Psychiatric symptoms in progressive supranuclear palsy. (16377371)
2006
27
In vivo imaging of microglial activation with [11C](R)-PK11195 PET in progressive supranuclear palsy. (16108021)
2006
28
The ratio of square wave jerk rates to blink rates distinguishes progressive supranuclear palsy from Parkinson disease. (17204917)
2006
29
Neurophysiological aids to the diagnosis of progressive supranuclear palsy (PSP). (16623336)
2006
30
A comparison of degeneration in motor thalamus and cortex between progressive supranuclear palsy and Parkinson's disease. (16014651)
2005
31
Natural history of progressive supranuclear palsy: a clinicopathologic study from a population of brain donors. (16015014)
2005
32
Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. (14991829)
2004
33
Distribution of tuft-shaped astrocytes in the cerebral cortex in progressive supranuclear palsy. (15365723)
2004
34
Creutzfeldt-Jakob disease presenting as progressive supranuclear palsy. (15142229)
2004
35
Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. (15293277)
2004
36
Transglutaminase activity, protein, and mRNA expression are increased in progressive supranuclear palsy. (12578227)
2003
37
The diagnostic importance of the isolated supranuclear downward gaze ophthalmoplegia in progressive supranuclear palsy. (14598066)
2003
38
Levodopa-induced oromandibular dystonia in progressive supranuclear palsy. (12691807)
2003
39
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
40
Cortical synapse loss in progressive supranuclear palsy. (11379815)
2001
41
Intracellular processing of aggregated tau differs between corticobasal degeneration and progressive supranuclear palsy. (11303763)
2001
42
Cognitive and magnetic resonance imaging aspects of corticobasal degeneration and progressive supranuclear palsy. (10449111)
1999
43
Neurofibrillary degeneration in progressive supranuclear palsy and corticobasal degeneration: tau pathologies with exclusively "exon 10" isoforms. (10037497)
1999
44
Mutational analysis of the tau gene in progressive supranuclear palsy. (10534245)
1999
45
Increased cerebrospinal fluid levels of neurofilament protein in progressive supranuclear palsy and multiple-system atrophy compared with Parkinson's disease. (9452329)
1998
46
Distribution of tangles and threads in the cerebral cortex in progressive supranuclear palsy. (7494600)
1995
47
Apolipoprotein E epsilon 4 allele frequency is not increased in progressive supranuclear palsy. (7675243)
1995
48
Epitope expression and hyperphosphorylation of tau protein in corticobasal degeneration: differentiation from progressive supranuclear palsy. (7572077)
1995
49
Corticobasal degeneration: a disease with widespread appearance of abnormal tau and neurofibrillary tangles, and its relation to progressive supranuclear palsy. (7985491)
1994
50
Mesostriatal and mesolimbic dopamine uptake binding sites are reduced in Parkinson's disease and progressive supranuclear palsy: a quantitative autoradiographic study using [3H]mazindol. (1436470)
1992

Variations for Progressive Supranuclear Palsy

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Progressive Supranuclear Palsy:

64
id Symbol AA change Variation ID SNP ID
1MAPTp.Arg5LeuVAR_019661rs63750959
2MAPTp.Gly620ValVAR_037439

Clinvar genetic disease variations for Progressive Supranuclear Palsy:

1
id Gene Name Type Significance SNP ID Assembly Location
1MAPTNM_016835.4(MAPT): c.1853C> T (p.Pro618Leu)single nucleotide variantPathogenicrs63751273GRCh37Chr 17, 44087755: 44087755
2MAPTNM_016835.4(MAPT): c.14G> T (p.Arg5Leu)single nucleotide variantPathogenicrs63750959GRCh37Chr 17, 44039717: 44039717
3MAPTNM_016835.4(MAPT): c.2006C> T (p.Ser669Leu)single nucleotide variantPathogenicrs63750425GRCh37Chr 17, 44096041: 44096041
4MAPTNM_016835.4(MAPT): c.1859G> T (p.Gly620Val)single nucleotide variantPathogenicrs63751391GRCh37Chr 17, 44087761: 44087761

Expression for genes affiliated with Progressive Supranuclear Palsy

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2BioGPS, 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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50PathCards, 55Reactome
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Compounds for genes affiliated with Progressive Supranuclear Palsy

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45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 61Tocris Bioscience, 29IUPHAR, 3BitterDB
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Compounds related to Progressive Supranuclear Palsy according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1vinorelbine45 51 1112.1VEGFA, MAPT
2thioflavine s4510.1RPS27A, MAPT
3fluorochrome4510.0MAPT, RPS27A
4Pyroglutamic acid24 1111.0VEGFA, HCRT
5radicicol45 61 1112.0VEGFA, RPS27A
6formate4510.0MAPT, RPS27A
7donepezil45 51 24 1112.9MAPT, CHRM1
8celecoxib45 61 29 51 24 1114.8RPS27A, VEGFA
9bortezomib45 51 1111.8RPS27A, VEGFA
10mg 13245 6110.7MAPT, RPS27A, VEGFA
11chloroquine45 3 51 29 1113.7MAPT, RPS27A
12n acetylcysteine459.7MAPT, RPS27A, VEGFA
134-hydroxynonenal45 2410.6RPS27A, MAPT
14doxorubicin45 51 1111.6VEGFA, RPS27A, MAPT
15actinomycin d459.6MAPT, RPS27A, VEGFA
16paraffin459.6VEGFA, RPS27A, MAPT
17nmda45 2910.5MAPT, RPS27A, HCRT
18silver459.4RPS27A, MAPT
19carbachol45 29 1111.4HCRT, CHRM1, MAPT
20nicotine45 29 51 1112.4HCRT, CHRM1, MAPT
21genistein45 29 61 3 24 1114.4MAPT, CHRM1, VEGFA
22cycloheximide459.4VEGFA, RPS27A, MAPT
23gaba459.2RPS27A, CHRM1, HCRT
24estrogen459.1HCRT, VEGFA, RPS27A, MAPT
25acetylcholine45 51 29 24 1112.9MAPT, RPS27A, CHRM1, HCRT
26adenylate458.9HCRT, CHRM1, RPS27A
27dopamine45 29 24 1111.9MAPT, RPS27A, CHRM1, HCRT
28glutamate458.9HCRT, CHRM1, RPS27A, MAPT
29alanine458.9MAPT, RPS27A, CHRM1, HCRT
30tyrosine458.0HCRT, VEGFA, CHRM1, IL21, RPS27A

GO Terms for genes affiliated with Progressive Supranuclear Palsy

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16Gene Ontology
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Cellular components related to Progressive Supranuclear Palsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granuleGO:0301419.6VEGFA, HCRT

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

idNameGO IDScoreTop Affiliating Genes
1regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:0614189.7VEGFA, RPS27A
2cellular response to hypoxiaGO:0714569.7RPS27A, VEGFA
3protein kinase C-activating G-protein coupled receptor signaling pathwayGO:0072059.3CHRM1, HCRT
4cell maturationGO:0484699.2VEGFA, IL21
5positive regulation of cell proliferationGO:0082848.4VEGFA, CHRM1, IL21

Products for genes affiliated with Progressive Supranuclear Palsy

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Sources for Progressive Supranuclear Palsy

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet