PSNP1
MCID: SPR120
MIFTS: 71

Supranuclear Palsy, Progressive, 1 (PSNP1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Supranuclear Palsy, Progressive, 1

MalaCards integrated aliases for Supranuclear Palsy, Progressive, 1:

Name: Supranuclear Palsy, Progressive, 1 57
Progressive Supranuclear Palsy 12 76 53 25 54 59 37 43 15 73
Steele-Richardson-Olszewski Syndrome 57 12 53 25 54 75
Supranuclear Palsy, Progressive 57 53 25 13 44
Progressive Supranuclear Ophthalmoplegia 12 25 29 6
Psp 57 53 25 75
Familial Progressive Supranuclear Palsy 53 73
Psnp1 57 75
Ophthalmoplegia, Supranuclear, Progressive 40
Progressive Supranuclear Palsy 1 75
Supranuclear Palsy Progressive 55
Richardson's Syndrome 25
Psp Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
progressive supranuclear palsy
Inheritance: Not applicable; Prevalence: 1-9/100000 (Worldwide),1-5/10000 (Europe),1-9/100000 (United States),1-9/100000 (Italy),1-5/10000 (Guadeloupe),1-9/100000 (United Kingdom),1-9/1000000 (Libyan Arab Jamahiriya),1-9/1000000 (United States),1-9/1000000 (Australia); Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
autosomal dominant with incomplete penetrance
phenotypic overlap with frontotemporal dementia
average age at onset 66 years although earlier onset may occur
median survival 5.7 years
may show good response to levodopa
genetic heterogeneity (see psnp2 )
associated with the tau h1 haplotype


HPO:

32
supranuclear palsy, progressive, 1:
Onset and clinical course adult onset
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Supranuclear Palsy, Progressive, 1

MedlinePlus : 43 What is progressive supranuclear palsy (PSP)? Progressive supranuclear palsy (PSP) is a rare brain disease. It happens because of damage to nerve cells in the brain. PSP affects your movement, including control of your walking and balance. It also affects your thinking and eye movement. PSP is progressive, which means that it gets worse over time. Who gets progressive supranuclear palsy (PSP)? PSP usually affects people over 60, but in some cases it can start earlier. It is more common in men. What causes progressive supranuclear palsy (PSP)? Researchers don't know what causes most cases of PSP. In rare cases, the cause is a mutation in a certain gene. One sign of PSP is abnormal clumps of tau in nerve cells in the brain. Tau is a protein in your nervous system, including in nerve cells. Some other diseases also cause a buildup of tau in the brain, including Alzheimer's disease. What are the symptoms of progressive supranuclear palsy (PSP)? Symptoms are very different in each person, but they may include A loss of balance while walking. This is often the first symptom. Speech problems Trouble swallowing A blurring of vision and problems controlling eye movement Changes in mood and behavior, including depression and apathy (a loss of interest and enthusiasm) Mild dementia How is progressive supranuclear palsy (PSP0 diagnosed? There is no specific test for PSP. It can be difficult to diagnose, because the symptoms are similar to other diseases such as Parkinson's disease and Alzheimer's disease. To make a diagnosis, your health care provider will take your medical history and do physical and neurological exams. You may have an MRI or other imaging tests. What are the treatments for progressive supranuclear palsy (PSP)? There is currently no effective treatment for PSP. Medicines may reduce some symptoms. Some non-drug treatments, such as walking aids and special glasses, may also help. People with severe swallowing problems may need gastrostomy. This is a surgery to insert a feeding tube into the stomach. PSP gets worse over time. Many people become severely disabled within three to five years after getting it. PSP isn't life-threatening on its own. It can still be be dangerous, because it increases your risk of pneumonia, choking from swallowing problems, and injuries from falling. But with good attention to medical and nutritional needs, many people with PSP can live 10 or more years after the first symptoms of the disease. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary : Supranuclear Palsy, Progressive, 1, also known as progressive supranuclear palsy, is related to frontotemporal lobar degeneration with tdp43 inclusions, grn-related and semantic dementia, and has symptoms including seizures, tremor and photophobia. An important gene associated with Supranuclear Palsy, Progressive, 1 is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. Affiliated tissues include brain, eye and testes, and related phenotypes are depressivity and tremor

Disease Ontology : 12 A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.

Genetics Home Reference : 25 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 : 53 Progressive supranuclear palsy (PSP) is a degenerative neurologic disease due to damage to nerve cells in the brain. Signs and symptoms vary but may include loss of balance; blurring of vision; problems controlling eye movement; changes in mood, behavior and judgment; cognitive decline; and slowing and slurred speech. PSP is often misdiagnosed as Parkinson disease due to similar symptoms. Onset is usually after age 60 but may occur earlier. Most cases of PSP appear to be sporadic, but familial cases have been reported. Some cases have been found to be caused by a mutation in the MAPT gene, and other genetic factors are being studied. There is currently no effective treatment for PSP, and symptoms usually do not respond to medications. Research regarding potential treatments is ongoing.

OMIM : 57 Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level (Baker et al., 1999). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; 600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (172700) should be restricted to the pathologic finding of Pick bodies. (601104)

NINDS : 54 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 often show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia. The disorder's long name indicates that the disease begins slowly and continues to get worse (progressive), and causes weakness (palsy) by damaging certain parts of the brain above pea-sized structures called nuclei that control eye movements (supranuclear). PSP was first described as a distinct disorder in 1964, when three scientists published a paper that distinguished the condition from Parkinson's disease. It is sometimes referred to as Steele-Richardson-Olszewski syndrome, reflecting the combined names of the scientists who defined the disorder. Although PSP gets progressively worse, no one dies from PSP itself.

UniProtKB/Swiss-Prot : 75 Progressive supranuclear palsy 1: Characterized by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive capacities deterioration. Neurofibrillary tangles and gliosis but no amyloid plaques are found in diseased brains. Most cases appear to be sporadic, with a significant association with a common haplotype including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance; genetic analysis of a few cases showed the occurrence of tau mutations, including a deletion of Asn-613.

Wikipedia : 76 Progressive supranuclear palsy (PSP; or the Steele�??Richardson�??Olszewski syndrome, after the doctors... more...

Related Diseases for Supranuclear Palsy, Progressive, 1

Diseases in the Supranuclear Palsy, Progressive, 1 family:

Supranuclear Palsy, Progressive, 2 Supranuclear Palsy, Progressive, 3

Diseases related to Supranuclear Palsy, Progressive, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.7 GRN MAPT RPS27A
2 semantic dementia 32.4 APOE GRN MAPT RPS27A TARDBP
3 corticobasal degeneration 32.3 LRRK2 MAPT RPS27A TARDBP
4 pick disease of brain 32.3 APOE APP CHAT GRN MAPT RPS27A
5 frontotemporal dementia 32.2 ACHE APOE APP GRN LRRK2 MAPT
6 perry syndrome 31.6 GRN SLC6A3 SNCA TARDBP TH
7 striatonigral degeneration 30.9 DRD2 SLC6A3 SNCA
8 aphasia 30.9 APOE APP GRN MAPT SNCA
9 tremor 30.8 LRRK2 MAPT PRKN SNCA
10 alzheimer disease 30.7 ACHE APOE APP CHAT GRN MAPT
11 postencephalitic parkinson disease 30.7 LRRK2 MAPT SNCA TARDBP
12 dystonia 30.6 DRD2 PRKN SLC6A3 TH
13 progressive non-fluent aphasia 30.5 GRN MAPT
14 cerebral amyloid angiopathy, cst3-related 30.5 APOE APP MAPT
15 rem sleep behavior disorder 30.4 ACHE LRRK2 RPS27A SLC6A3 SNCA
16 essential tremor 30.4 LRRK2 PRKN SLC6A3 SNCA
17 akinetic mutism 30.3 MAPT SLC6A3
18 mutism 30.2 GRN SLC6A3
19 ideomotor apraxia 30.2 CBS GRN MAPT
20 brain injury 30.2 APOE DRD2 MAPT
21 major depressive disorder 30.0 APOE CRHR1 DRD2 SLC6A3
22 restless legs syndrome 29.9 DRD2 PRKN SLC6A3 SNCA TH
23 agraphia 29.9 ACHE CBS GRN MAPT TARDBP
24 amyotrophic lateral sclerosis 1 29.9 APP CHAT GRN MAPT RPS27A SNCA
25 motor neuron disease 29.8 CHAT GRN MAPT RPS27A SNCA TARDBP
26 parkinson disease, late-onset 29.8 ACHE APOE APP CHAT DRD2 LRRK2
27 synucleinopathy 29.7 APP LRRK2 MAPT PARK7 PRKN SLC6A3
28 movement disease 29.6 DRD2 LRRK2 MAPT PARK7 PRKN SLC6A3
29 multiple system atrophy 1 29.6 DRD2 LRRK2 MAPT PRKN RPS27A SLC6A3
30 dementia 29.4 ACHE APOE APP CHAT GRN LRRK2
31 supranuclear palsy, progressive, 2 12.4
32 supranuclear palsy, progressive, 3 12.4
33 pneumothorax, primary spontaneous 11.8
34 parkinson-dementia syndrome 11.6
35 dysphagia 11.6
36 swallowing disorders 11.2
37 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.2
38 progressive supranuclear palsy-corticobasal syndrome 11.2
39 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 11.2
40 classic progressive supranuclear palsy syndrome 11.0
41 frontotemporal dementia with parkinsonism-17 10.6
42 episodic kinesigenic dyskinesia 1 10.4
43 torticollis 10.4
44 apraxia 10.4
45 adenocarcinoma 10.4
46 depression 10.4
47 lateral sclerosis 10.4
48 creutzfeldt-jakob disease 10.3
49 simultanagnosia 10.3 APOE MAPT
50 hereditary late-onset parkinson disease 10.3 LRRK2 SNCA

Graphical network of the top 20 diseases related to Supranuclear Palsy, Progressive, 1:



Diseases related to Supranuclear Palsy, Progressive, 1

Symptoms & Phenotypes for Supranuclear Palsy, Progressive, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
diplopia
photophobia
blurred vision
eyelid apraxia
supranuclear gaze palsy

Abdomen Gastrointestinal:
dysphagia

Neurologic Central Nervous System:
dysarthria
gait imbalance
falls
rigidity
bradykinesia
more
Neurologic Behavioral Psychiatric Manifestations:
irritability
apathy
forgetfulness
frontal release signs (45%)


Clinical features from OMIM:

601104

Human phenotypes related to Supranuclear Palsy, Progressive, 1:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
2 tremor 59 32 very rare (1%) Occasional (29-5%) HP:0001337
3 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
4 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
5 falls 59 32 hallmark (90%) Very frequent (99-80%) HP:0002527
6 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
7 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
8 aphasia 59 32 frequent (33%) Frequent (79-30%) HP:0002381
9 rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002063
10 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
11 blepharospasm 59 32 frequent (33%) Frequent (79-30%) HP:0000643
12 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
13 impulsivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0100710
14 slow saccadic eye movements 59 32 frequent (33%) Frequent (79-30%) HP:0000514
15 postural instability 59 32 hallmark (90%) Very frequent (99-80%) HP:0002172
16 unsteady gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002317
17 supranuclear gaze palsy 59 32 Very frequent (99-80%) HP:0000605
18 supranuclear ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000623
19 neuronal loss in central nervous system 59 32 hallmark (90%) Very frequent (99-80%) HP:0002529
20 abnormal synaptic transmission 59 32 hallmark (90%) Very frequent (99-80%) HP:0012535
21 vertical supranuclear gaze palsy 59 32 frequent (33%) Frequent (79-30%) HP:0000511
22 gliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002171
23 pseudobulbar signs 59 32 frequent (33%) Frequent (79-30%) HP:0002200
24 abnormality of eye movement 59 Occasional (29-5%)
25 diplopia 32 HP:0000651
26 dysarthria 32 HP:0001260
27 cognitive impairment 59 Frequent (79-30%)
28 photophobia 32 HP:0000613
29 irritability 32 HP:0000737
30 gait imbalance 32 HP:0002141
31 dystonia 59 Frequent (79-30%)
32 blurred vision 32 HP:0000622
33 parkinsonism 32 HP:0001300
34 neurofibrillary tangles 32 HP:0002185
35 apathy 32 HP:0000741
36 eyelid apraxia 32 HP:0000658
37 akinesia 32 HP:0002304
38 mutism 32 HP:0002300
39 neuronal loss in basal ganglia 32 HP:0200147
40 limb dystonia 32 very rare (1%) HP:0002451
41 axial dystonia 32 HP:0002530
42 frontal release signs 32 very rare (1%) HP:0000743
43 retrocollis 32 HP:0002544
44 frontolimbic dementia 32 HP:0002439
45 granulovacuolar degeneration 32 HP:0002528

UMLS symptoms related to Supranuclear Palsy, Progressive, 1:


seizures, tremor, photophobia, back pain, pain, headache, bradykinesia, ophthalmoplegia, syncope, chronic pain, sciatica, muscle rigidity, vertigo/dizziness, sleeplessness, forgetful, poor mobility

MGI Mouse Phenotypes related to Supranuclear Palsy, Progressive, 1:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.47 ACHE APOE APP CHAT CRHR1 DRD2
2 homeostasis/metabolism MP:0005376 10.41 ACHE APOE APP CHAT CRHR1 DRD2
3 growth/size/body region MP:0005378 10.38 ACHE APOE APP CHAT DRD2 GRN
4 cellular MP:0005384 10.36 APOE APP DRD2 GRN LRRK2 MAPT
5 mortality/aging MP:0010768 10.33 ACHE APOE APP CHAT CRHR1 DRD2
6 nervous system MP:0003631 10.31 ACHE APOE APP CHAT CRHR1 DRD2
7 cardiovascular system MP:0005385 10.3 APOE APP CHAT CRHR1 DRD2 LRRK2
8 hematopoietic system MP:0005397 10.22 ACHE APOE APP DRD2 GRN LRRK2
9 immune system MP:0005387 10.19 APOE APP DRD2 GRN LRRK2 MAPT
10 integument MP:0010771 10.18 APOE APP DRD2 LRRK2 MAPT NDUFS4
11 no phenotypic analysis MP:0003012 10.15 ACHE APOE APP CRHR1 DRD2 GRN
12 muscle MP:0005369 10.13 ACHE APOE APP CHAT DRD2 MAPT
13 normal MP:0002873 10.06 APP CHAT CRHR1 DRD2 LRRK2 MAPT
14 respiratory system MP:0005388 9.91 ACHE APOE CHAT CRHR1 DRD2 LRRK2
15 skeleton MP:0005390 9.81 APOE CHAT DRD2 LRRK2 NDUFS4 PRKN
16 taste/olfaction MP:0005394 9.35 APOE DRD2 MAPT SLC6A3 SNCA
17 vision/eye MP:0005391 9.23 ACHE APOE CHAT CRHR1 GRN MAPT

Drugs & Therapeutics for Supranuclear Palsy, Progressive, 1

Search Clinical Trials , NIH Clinical Center for Supranuclear Palsy, Progressive, 1

Cochrane evidence based reviews: supranuclear palsy, progressive

Genetic Tests for Supranuclear Palsy, Progressive, 1

Genetic tests related to Supranuclear Palsy, Progressive, 1:

# Genetic test Affiliating Genes
1 Progressive Supranuclear Ophthalmoplegia 29 MAPT

Anatomical Context for Supranuclear Palsy, Progressive, 1

MalaCards organs/tissues related to Supranuclear Palsy, Progressive, 1:

41
Brain, Eye, Testes, Cortex, Cerebellum, Colon, Pons

Publications for Supranuclear Palsy, Progressive, 1

Articles related to Supranuclear Palsy, Progressive, 1:

(show top 50) (show all 1157)
# Title Authors Year
1
Traumatic Brain Injury and Firearm Use and Risk of Progressive Supranuclear Palsy Among Veterans. ( 29973911 )
2018
2
Clinical Routine FDG-PET Imaging of Suspected Progressive Supranuclear Palsy and Corticobasal Degeneration: A Gatekeeper for Subsequent Tau-PET Imaging? ( 29973914 )
2018
3
Neurogenic bladder in progressive supranuclear palsy: A comparison with Parkinson's disease and multiple system atrophy. ( 29356135 )
2018
4
Aphasia in Progressive Supranuclear Palsy: As Severe as Progressive Non-Fluent Aphasia. ( 29254097 )
2018
5
Anti-inflammatory drug use and progressive supranuclear palsy. ( 29307562 )
2018
6
DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy. ( 29499916 )
2018
7
Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype. ( 29926172 )
2018
8
[11C]PK11195 binding in Alzheimer disease and progressive supranuclear palsy. ( 29703774 )
2018
9
Protein Phosphatase 2A and Its Methylation Modulating Enzymes LCMT-1 and PME-1 Are Dysregulated in Tauopathies of Progressive Supranuclear Palsy and Alzheimer Disease. ( 29281045 )
2018
10
Is it Useful to Classify Progressive Supranuclear Palsy and Corticobasal Degeneration as Different Disorders? No. ( 30363409 )
2018
11
Stereotypic behaviours in frontotemporal dementia and progressive supranuclear palsy. ( 30399478 )
2018
12
Levodopa-induced dystonia in a patient with possible progressive supranuclear palsy with progressive gait freezing. ( 29627008 )
2018
13
Progressive supranuclear palsy responding to intravenous thiamine: superimposed Wernicke's encephalopathy? ( 30131406 )
2018
14
The role of 18F-FP-CIT PET in differentiation of progressive supranuclear palsy and frontotemporal dementia in the early stage. ( 29728749 )
2018
15
Association between semantic dementia and progressive supranuclear palsy. ( 29661923 )
2018
16
Prominent tongue and jaw tremor in a patient with probable Progressive Supranuclear Palsy. ( 30271811 )
2018
17
Progressive Supranuclear Palsy-like Syndrome from Possible Cerebral Amyloid Angiopathy. ( 30457071 )
2018
18
MRI evaluation of progressive supranuclear palsy: differentiation from Parkinson's disease and multiple system atrophy. ( 30373485 )
2018
19
Simple linear brainstem MRI measurements in the differential diagnosis of progressive supranuclear palsy from the parkinsonian variant of multiple system atrophy. ( 29196955 )
2018
20
A Histologic Study of the Circadian System in Parkinson Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy. ( 29710120 )
2018
21
Progressive supranuclear palsy and multiple system atrophy: clinicopathological concepts and therapeutic challenges. ( 29746401 )
2018
22
Comparative cognitive and neuropsychiatric profiles between Parkinson's disease, multiple system atrophy and progressive supranuclear palsy. ( 30178175 )
2018
23
Evaluation of Retinal Changes in Progressive Supranuclear Palsy and Parkinson Disease. ( 29240574 )
2018
24
Blink reflex recovery cycle to differentiate progressive supranuclear palsy from corticobasal syndrome. ( 29754397 )
2018
25
Neuromelanin imaging and midbrain volumetry in progressive supranuclear palsy and Parkinson's disease. ( 29756366 )
2018
26
An Autopsy Case of Progressive Supranuclear Palsy With Incidental ATXN2 Expansion. ( 29801076 )
2018
27
Sensitivity and Specificity of the ECAS in Parkinson's Disease and Progressive Supranuclear Palsy. ( 29862010 )
2018
28
The diagnosis of progressive supranuclear palsy: current opinions and challenges. ( 29902389 )
2018
29
Serum neurofilament light chain in progressive supranuclear palsy. ( 29937097 )
2018
30
Clinical value of CSF amyloid-beta-42 and tau proteins in Progressive Supranuclear Palsy. ( 29948175 )
2018
31
Neuroimaging-pathological correlations of [18F]THK5351 PET in progressive supranuclear palsy. ( 29958546 )
2018
32
Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci. ( 29986742 )
2018
33
Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1. ( 30050033 )
2018
34
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype. ( 30066433 )
2018
35
A new MR imaging index for differentiation of progressive supranuclear palsy-parkinsonism from Parkinson's disease. ( 30068492 )
2018
36
Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. ( 30089514 )
2018
37
Spatial working memory in Progressive Supranuclear Palsy. ( 30103907 )
2018
38
Divergent brain gene expression patterns associate with distinct cell-specific tau neuropathology traits in progressive supranuclear palsy. ( 30136084 )
2018
39
Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy. ( 30158953 )
2018
40
Anaesthetic management in a patient with progressive supranuclear palsy. ( 30166665 )
2018
41
Energization and spoken language production: Evidence from progressive supranuclear palsy. ( 30195029 )
2018
42
Improved Automatic Morphology-Based Classification of Parkinson's Disease and Progressive Supranuclear Palsy. ( 30218110 )
2018
43
An unusual manifestation of Pisa syndrome in progressive supranuclear palsy. ( 30233030 )
2018
44
PTPRC Expression in Blood is Downregulated in Parkinson's and Progressive Supranuclear Palsy Disorders. ( 30248063 )
2018
45
Neuropsychiatric Symptoms as Early Manifestation of Progressive Supranuclear Palsy. ( 30275628 )
2018
46
Was the subject portrayed in "A Man" by Cornelis Anthonisz around 1530 really affected by progressive supranuclear palsy? ( 30324250 )
2018
47
Pedunculopontine tegmentum cholinergic loss leads to a progressive decline in motor abilities and neuropathological changes resembling progressive supranuclear palsy. ( 30339310 )
2018
48
Widespread diffusion changes differentiate Parkinson's disease and progressive supranuclear palsy. ( 30342392 )
2018
49
Atypical parkinsonism of progressive supranuclear palsy-parkinsonism (PSP-P) phenotype with rare variants in FBXO7 and VPS35 genes associated with Lewy body pathology. ( 30374525 )
2018
50
MIBG myocardial scintigraphy in progressive supranuclear palsy. ( 30391822 )
2018

Variations for Supranuclear Palsy, Progressive, 1

UniProtKB/Swiss-Prot genetic disease variations for Supranuclear Palsy, Progressive, 1:

75
# Symbol AA change Variation ID SNP ID
1 MAPT p.Arg5Leu VAR_019661 rs63750959
2 MAPT p.Gly620Val VAR_037439 rs63751391

ClinVar genetic disease variations for Supranuclear Palsy, Progressive, 1:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAPT NM_005910.5(MAPT): c.902C> T (p.Pro301Leu) single nucleotide variant Pathogenic rs63751273 GRCh37 Chromosome 17, 44087755: 44087755
2 MAPT NM_005910.5(MAPT): c.902C> T (p.Pro301Leu) single nucleotide variant Pathogenic rs63751273 GRCh38 Chromosome 17, 46010389: 46010389
3 MAPT NM_016835.4(MAPT): c.14G> T (p.Arg5Leu) single nucleotide variant Pathogenic rs63750959 GRCh37 Chromosome 17, 44039717: 44039717
4 MAPT NM_016835.4(MAPT): c.14G> T (p.Arg5Leu) single nucleotide variant Pathogenic rs63750959 GRCh38 Chromosome 17, 45962351: 45962351
5 MAPT NM_016835.4(MAPT): c.2006C> T (p.Ser669Leu) single nucleotide variant Pathogenic rs63750425 GRCh37 Chromosome 17, 44096041: 44096041
6 MAPT NM_016835.4(MAPT): c.2006C> T (p.Ser669Leu) single nucleotide variant Pathogenic rs63750425 GRCh38 Chromosome 17, 46018675: 46018675
7 MAPT NM_016835.4(MAPT): c.1859G> T (p.Gly620Val) single nucleotide variant Pathogenic rs63751391 GRCh37 Chromosome 17, 44087761: 44087761
8 MAPT NM_016835.4(MAPT): c.1859G> T (p.Gly620Val) single nucleotide variant Pathogenic rs63751391 GRCh38 Chromosome 17, 46010395: 46010395
9 MAPT NM_001123066.3(MAPT): c.623delG (p.Gly208Alafs) deletion Uncertain significance rs1085307079 GRCh38 Chromosome 17, 45983427: 45983427
10 MAPT NM_001123066.3(MAPT): c.623delG (p.Gly208Alafs) deletion Uncertain significance rs1085307079 GRCh37 Chromosome 17, 44060793: 44060793
11 MAPT NM_016841.4(MAPT): c.47G> T (p.Gly16Val) single nucleotide variant Uncertain significance rs755131800 GRCh37 Chromosome 17, 44039750: 44039750
12 MAPT NM_016841.4(MAPT): c.47G> T (p.Gly16Val) single nucleotide variant Uncertain significance rs755131800 GRCh38 Chromosome 17, 45962384: 45962384

Expression for Supranuclear Palsy, Progressive, 1

Search GEO for disease gene expression data for Supranuclear Palsy, Progressive, 1.

Pathways for Supranuclear Palsy, Progressive, 1

GO Terms for Supranuclear Palsy, Progressive, 1

Cellular components related to Supranuclear Palsy, Progressive, 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.88 APOE DRD2 LRRK2 MAPT TH
2 synaptic vesicle membrane GO:0030672 9.67 DRD2 LRRK2 SNCA
3 growth cone GO:0030426 9.67 APP LRRK2 MAPT SNCA
4 membrane raft GO:0045121 9.65 APP LRRK2 MAPT PARK7 SLC6A3
5 neuronal cell body GO:0043025 9.63 APOE LRRK2 MAPT SLC6A3 SNCA TH
6 presynapse GO:0098793 9.62 CHAT PARK7 PRKN SNCA
7 mitochondrial respiratory chain complex I GO:0005747 9.61 NDUFS4 PARK7 SNCA
8 terminal bouton GO:0043195 9.58 LRRK2 SNCA TH
9 neuron projection GO:0043005 9.56 APP CHAT LRRK2 MAPT PARK7 PRKN
10 synaptic cleft GO:0043083 9.52 ACHE APOE
11 dopaminergic synapse GO:0098691 9.51 DRD2 SLC6A3
12 main axon GO:0044304 9.46 APP MAPT
13 axon GO:0030424 9.23 APP DRD2 LRRK2 MAPT PARK7 SLC6A3
14 mitochondrion GO:0005739 10.08 LRRK2 MAPT NDUFS4 PARK7 PRKN SNCA

Biological processes related to Supranuclear Palsy, Progressive, 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.92 APOE APP PRKN RPS27A SNCA
2 autophagy GO:0006914 9.91 DRD2 LRRK2 PARK7 PRKN
3 negative regulation of gene expression GO:0010629 9.91 APOE APP MAPT PARK7 PRKN TARDBP
4 mitochondrion organization GO:0007005 9.88 LRRK2 PARK7 PRKN
5 cellular response to oxidative stress GO:0034599 9.87 LRRK2 PARK7 SNCA
6 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.87 APP PARK7 SNCA
7 negative regulation of neuron apoptotic process GO:0043524 9.87 APOE PARK7 PRKN SNCA
8 response to oxidative stress GO:0006979 9.86 APOE APP LRRK2 PRKN
9 excitatory postsynaptic potential GO:0060079 9.83 DRD2 LRRK2 SNCA
10 negative regulation of cell death GO:0060548 9.83 DRD2 PARK7 PRKN
11 positive regulation of protein binding GO:0032092 9.83 APP LRRK2 PRKN
12 regulation of autophagy GO:0010506 9.82 LRRK2 MAPT PRKN
13 learning GO:0007612 9.81 APP PRKN TH
14 locomotory behavior GO:0007626 9.8 APP DRD2 PRKN SLC6A3 TH
15 synapse organization GO:0050808 9.78 APP MAPT SNCA
16 adult locomotory behavior GO:0008344 9.78 APP PARK7 PRKN SNCA
17 response to cocaine GO:0042220 9.76 DRD2 SLC6A3 SNCA
18 response to nicotine GO:0035094 9.75 DRD2 SLC6A3 TH
19 positive regulation of long-term synaptic potentiation GO:1900273 9.72 APP DRD2
20 response to iron ion GO:0010039 9.72 DRD2 SLC6A3
21 startle response GO:0001964 9.72 DRD2 PRKN
22 negative regulation of neuron death GO:1901215 9.72 APOE LRRK2 PARK7 PRKN SNCA
23 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.71 LRRK2 PARK7
24 striatum development GO:0021756 9.71 DRD2 LRRK2
25 prepulse inhibition GO:0060134 9.71 DRD2 SLC6A3
26 cellular response to dopamine GO:1903351 9.71 LRRK2 PRKN
27 locomotory exploration behavior GO:0035641 9.71 APOE LRRK2
28 regulation of long-term neuronal synaptic plasticity GO:0048169 9.71 APP DRD2 SNCA
29 supramolecular fiber organization GO:0097435 9.7 MAPT SNCA
30 amyloid precursor protein metabolic process GO:0042982 9.69 ACHE APOE
31 virion assembly GO:0019068 9.69 APOE RPS27A
32 astrocyte activation GO:0048143 9.69 APP MAPT
33 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 LRRK2 PARK7 PRKN
34 negative regulation of long-term synaptic potentiation GO:1900272 9.68 APOE APP
35 regulation of dopamine metabolic process GO:0042053 9.68 PRKN SLC6A3
36 adenohypophysis development GO:0021984 9.68 DRD2 SLC6A3
37 amyloid fibril formation GO:1990000 9.68 APP MAPT
38 intracellular distribution of mitochondria GO:0048312 9.67 LRRK2 MAPT
39 negative regulation of voltage-gated calcium channel activity GO:1901386 9.67 CRHR1 DRD2
40 positive regulation of microglial cell activation GO:1903980 9.67 APP LRRK2
41 dopamine metabolic process GO:0042417 9.67 DRD2 PRKN SNCA
42 regulation of locomotion GO:0040012 9.66 LRRK2 SNCA
43 mating behavior GO:0007617 9.64 APP TH
44 regulation of mitochondrial fission GO:0090140 9.64 LRRK2 MAPT
45 negative regulation of oxidative stress-induced cell death GO:1903202 9.63 PARK7 PRKN
46 dopamine biosynthetic process GO:0042416 9.63 SLC6A3 SNCA TH
47 positive regulation of autophagy of mitochondrion GO:1903599 9.62 PARK7 PRKN
48 protein localization to mitochondrion GO:0070585 9.62 LRRK2 PRKN
49 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.6 PARK7 PRKN
50 positive regulation of amyloid fibril formation GO:1905908 9.59 APOE APP

Molecular functions related to Supranuclear Palsy, Progressive, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 ACHE APOE CBS DRD2 LRRK2 MAPT
2 tubulin binding GO:0015631 9.58 LRRK2 MAPT PRKN
3 enzyme binding GO:0019899 9.5 APP CBS MAPT PARK7 PRKN SNCA
4 ubiquitin-specific protease binding GO:1990381 9.46 PARK7 PRKN
5 phospholipase binding GO:0043274 9.43 PRKN SNCA
6 cuprous ion binding GO:1903136 9.37 PARK7 SNCA
7 dopamine binding GO:0035240 9.33 DRD2 SLC6A3 TH
8 lipoprotein particle binding GO:0071813 9.32 APOE MAPT
9 identical protein binding GO:0042802 9.32 APOE APP CBS DRD2 LRRK2 MAPT

Sources for Supranuclear Palsy, Progressive, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....