PSP
MCID: PRG006
MIFTS: 65

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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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 based summary: Progressive Supranuclear Palsy, also known as progressive supranuclear ophthalmoplegia, is related to multiple system atrophy and parkinson's disease, and has symptoms including 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.

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 (psp) 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 people walk. it usually occurs in middle-aged or elderly people. symptoms are very different in each person, but may include personality changes; and speech, vision or swallowing problems. doctors sometimes confuse psp with parkinson's disease or alzheimer's disease. in most cases, the genetic cause of psp is unknown. rarely, the disease is known to result from mutations in the mapt gene. psp has no effective treatments, but some symptoms may be managed with medication. last updated: 8/28/2014

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

Descriptions from OMIM:46 601104,609454,610898

Aliases & Classifications for Progressive Supranuclear Palsy

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 26ICD10 via Orphanet, 25ICD10
See all sources

Progressive Supranuclear Palsy, Aliases & Descriptions:

Name: Progressive Supranuclear Palsy 8 42 21 43 10 33 62
Progressive Supranuclear Ophthalmoplegia 8 22 21 62
Steele-Richardson-Olszewski Syndrome 42 21 43 62
Supranuclear Palsy, Progressive 9 42 21 46
Familial Progressive Supranuclear Palsy 42 62
Steele-Richardson-Olszewski Disease 48 62
 
Richardson's Syndrome 21 62
Psp 42 21
Classical Progressive Supranuclear Palsy 48
Supranuclear Palsy Progressive 44
Richardson Syndrome 48
Classical Psp 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
steele-richardson-olszewski disease:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


External Ids:

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

Related Diseases for Progressive Supranuclear Palsy

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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 104)
idRelated DiseaseScoreTop Affiliating Genes
1multiple system atrophy31.9RPS27A, MAPT
2parkinson's disease31.6HCRT, MAPT, RPS27A, STH
3frontotemporal dementia31.4MAPT, RPS27A, STH
4pick's disease31.2RD3, RPS27A, MAPT
5tauopathy31.2STH, MAPT, RPS27A
6creutzfeldt-jakob disease31.2MAPT, RPS27A
7primary progressive aphasia31.0MAPT, RPS27A
8normal pressure hydrocephalus30.9HCRT, MAPT
9dementia30.9RPS27A, STH, CHRM1, HCRT, MAPT
10motor neuron disease30.8RPS27A, MAPT
11alzheimer's disease30.7CHRM1, MAPT, RPS27A, STH, HCRT
12corticobasal degeneration11.2
13neuronitis10.8
14cerebritis10.8
15apraxia10.8
16aphasia10.7
17progressive supranuclear palsy atypical10.7
18lateral sclerosis10.6
19striatonigral degeneration10.6
20dystonia10.6
21ophthalmoplegia10.6
22internuclear ophthalmoplegia10.5
23progressive supranuclear palsy - corticobasal syndrome10.5
24feigenbaum bergeron richardson syndrome10.5
25amyotrophic lateral sclerosis10.5
26cerebellar ataxia10.5
27hypertension10.5
28rem sleep behavior disorder10.5
29cervicitis10.5
30ataxia10.5
31cerebral atrophy10.5
32progressive supranuclear palsy - progressive non fluent aphasia10.5
33neuronal intranuclear inclusion disease10.4RPS27A
34hydrocephalus10.4
35pseudobulbar palsy10.4
36synucleinopathy10.4
37limb dystonia10.4
38progressive supranuclear palsy, mapt-related10.4
39dysphagia10.4
40myoclonus10.4
41tremor10.4
42supranuclear palsy, progressive, 210.4
43supranuclear palsy, progressive, 310.4
44progressive supranuclear palsy - pure akinesia with gait freezing10.4
45argyrophilic grain disease10.4
46craniopharyngioma10.4HCRT
47inclusion body myositis10.3RPS27A, MAPT
48semantic dementia10.3RPS27A, MAPT
49lewy body dementia10.3RPS27A, MAPT
50spinocerebellar ataxia10.2RPS27A, MAPT

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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Symptoms by clinical synopsis from OMIM:

601104

Clinical features from OMIM:

601104,609454,610898

HPO human phenotypes related to Progressive Supranuclear Palsy:

(show all 29)
id Description Frequency HPO Source Accession
1 frontal release signs 45% HP:0000743
2 tremor 30% HP:0001337
3 limb dystonia 18% HP:0002451
4 autosomal dominant inheritance HP:0000006
5 supranuclear gaze palsy HP:0000605
6 photophobia HP:0000613
7 blurred vision HP:0000622
8 diplopia HP:0000651
9 eyelid apraxia HP:0000658
10 irritability HP:0000737
11 apathy HP:0000741
12 dysarthria HP:0001260
13 parkinsonism HP:0001300
14 dysphagia HP:0002015
15 rigidity HP:0002063
16 bradykinesia HP:0002067
17 gait imbalance HP:0002141
18 gliosis HP:0002171
19 neurofibrillary tangles HP:0002185
20 mutism HP:0002300
21 akinesia HP:0002304
22 memory impairment HP:0002354
23 frontolimbic dementia HP:0002439
24 falls HP:0002527
25 granulovacuolar degeneration HP:0002528
26 neuronal loss in central nervous system HP:0002529
27 axial dystonia HP:0002530
28 retrocollis HP:0002544
29 adult onset HP:0003581

Drugs & Therapeutics for Progressive Supranuclear Palsy

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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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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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MalaCards organs/tissues related to Progressive Supranuclear Palsy:

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

Animal Models for Progressive Supranuclear Palsy or affiliated genes

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MGI Mouse Phenotypes related to Progressive Supranuclear Palsy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1RD3, MAPT, CHRM1, VEGFA, HCRT

Publications for Progressive Supranuclear Palsy

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Articles related to Progressive Supranuclear Palsy:

(show top 50)    (show all 666)
idTitleAuthorsYear
1
Long-term follow-up of deep brain stimulation of peduncolopontine nucleus in progressive supranuclear palsy: Report of three cases. (25289173)
2014
2
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease. (24252572)
2013
3
Behavioral abnormalities in progressive supranuclear palsy. (24035530)
2013
4
Diffusion tensor tract-specific analysis of the uncinate fasciculus in patients with progressive supranuclear palsy. (23428241)
2013
5
Electrophysiological features of lower motor neuron involvement in progressive supranuclear palsy. (23146616)
2013
6
Spatial patterns of the tau pathology in progressive supranuclear palsy. (22411688)
2013
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
Gaze control and foot kinematics during stair climbing: characteristics leading to fall risk in progressive supranuclear palsy. (18073265)
2008
15
Astrocytic tau pathology positively correlates with neurofibrillary tangle density in progressive supranuclear palsy. (18427815)
2008
16
J. Clifford Richardson and 50 years of progressive supranuclear palsy. (18268249)
2008
17
Control of vertical components of gait during initiation of walking in normal adults and patients with progressive supranuclear palsy. (17126017)
2007
18
Co-occurrence of radiological features of progressive supranuclear palsy and corticobasal degeneration. (17272907)
2007
19
Pupil diameter in darkness differentiates progressive supranuclear palsy (PSP) from other extrapyramidal syndromes. (17853484)
2007
20
Progressive supranuclear palsy. (18808956)
2007
21
Lrrk2 R1441 substitution and progressive supranuclear palsy. (16409550)
2006
22
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
23
Atypical progressive supranuclear palsy with corticospinal tract degeneration. (16691120)
2006
24
Unexpected abundance of pathological tau in progressive supranuclear palsy white matter. (16823854)
2006
25
Psychiatric symptoms in progressive supranuclear palsy. (16377371)
2006
26
In vivo imaging of microglial activation with [11C](R)-PK11195 PET in progressive supranuclear palsy. (16108021)
2006
27
The ratio of square wave jerk rates to blink rates distinguishes progressive supranuclear palsy from Parkinson disease. (17204917)
2006
28
Neurophysiological aids to the diagnosis of progressive supranuclear palsy (PSP). (16623336)
2006
29
A comparison of degeneration in motor thalamus and cortex between progressive supranuclear palsy and Parkinson's disease. (16014651)
2005
30
Natural history of progressive supranuclear palsy: a clinicopathologic study from a population of brain donors. (16015014)
2005
31
Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. (14991829)
2004
32
Distribution of tuft-shaped astrocytes in the cerebral cortex in progressive supranuclear palsy. (15365723)
2004
33
Creutzfeldt-Jakob disease presenting as progressive supranuclear palsy. (15142229)
2004
34
Novel haplotypes in 17q21 are associated with progressive supranuclear palsy. (15293277)
2004
35
Transglutaminase activity, protein, and mRNA expression are increased in progressive supranuclear palsy. (12578227)
2003
36
The diagnostic importance of the isolated supranuclear downward gaze ophthalmoplegia in progressive supranuclear palsy. (14598066)
2003
37
Levodopa-induced oromandibular dystonia in progressive supranuclear palsy. (12691807)
2003
38
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
39
Cortical synapse loss in progressive supranuclear palsy. (11379815)
2001
40
Intracellular processing of aggregated tau differs between corticobasal degeneration and progressive supranuclear palsy. (11303763)
2001
41
Cognitive and magnetic resonance imaging aspects of corticobasal degeneration and progressive supranuclear palsy. (10449111)
1999
42
Neurofibrillary degeneration in progressive supranuclear palsy and corticobasal degeneration: tau pathologies with exclusively "exon 10" isoforms. (10037497)
1999
43
Mutational analysis of the tau gene in progressive supranuclear palsy. (10534245)
1999
44
Increased cerebrospinal fluid levels of neurofilament protein in progressive supranuclear palsy and multiple-system atrophy compared with Parkinson's disease. (9452329)
1998
45
Distribution of tangles and threads in the cerebral cortex in progressive supranuclear palsy. (7494600)
1995
46
Apolipoprotein E epsilon 4 allele frequency is not increased in progressive supranuclear palsy. (7675243)
1995
47
Epitope expression and hyperphosphorylation of tau protein in corticobasal degeneration: differentiation from progressive supranuclear palsy. (7572077)
1995
48
Corticobasal degeneration: a disease with widespread appearance of abnormal tau and neurofibrillary tangles, and its relation to progressive supranuclear palsy. (7985491)
1994
49
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
50
CSF galanin and neuropeptide Y immunoreactivity in progressive supranuclear palsy. (1384261)
1992

Variations for Progressive Supranuclear Palsy

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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:

6
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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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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Compounds for genes affiliated with Progressive Supranuclear Palsy

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

(show all 30)
idCompoundScoreTop Affiliating Genes
1vinorelbine44 50 1112.1MAPT, VEGFA
2thioflavine s4410.1MAPT, RPS27A
3fluorochrome4410.0RPS27A, MAPT
4Pyroglutamic acid24 1111.0HCRT, VEGFA
5radicicol44 61 1112.0RPS27A, VEGFA
6formate4410.0MAPT, RPS27A
7donepezil44 50 24 1112.9MAPT, CHRM1
8celecoxib44 61 28 50 24 1114.8RPS27A, VEGFA
9bortezomib44 50 1111.8RPS27A, VEGFA
10mg 13244 6110.7RPS27A, VEGFA, MAPT
11chloroquine44 2 50 28 1113.7RPS27A, MAPT
12n acetylcysteine449.7RPS27A, VEGFA, MAPT
13silver449.6MAPT, RPS27A
14doxorubicin44 50 1111.6RPS27A, MAPT, VEGFA
15actinomycin d449.6VEGFA, MAPT, RPS27A
16paraffin449.6MAPT, VEGFA, RPS27A
17nmda44 2810.5HCRT, MAPT, RPS27A
184-hydroxynonenal44 2410.4MAPT, RPS27A
19carbachol44 28 1111.4HCRT, CHRM1, MAPT
20nicotine44 28 50 1112.4CHRM1, MAPT, HCRT
21genistein44 28 61 2 24 1114.4CHRM1, MAPT, VEGFA
22cycloheximide449.4VEGFA, RPS27A, MAPT
23gaba449.2HCRT, CHRM1, RPS27A
24estrogen449.1RPS27A, VEGFA, MAPT, HCRT
25acetylcholine44 50 28 24 1112.9MAPT, HCRT, CHRM1, RPS27A
26adenylate448.9HCRT, CHRM1, RPS27A
27dopamine44 28 24 1111.9MAPT, RPS27A, CHRM1, HCRT
28glutamate448.9RPS27A, MAPT, CHRM1, HCRT
29alanine448.9MAPT, RPS27A, CHRM1, HCRT
30tyrosine448.0VEGFA, HCRT, CHRM1, IL21, RPS27A

GO Terms for genes affiliated with Progressive Supranuclear Palsy

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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:0614189.7RPS27A, VEGFA
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:0082848.4IL21, CHRM1, VEGFA

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet