PSNP1
MCID: SPR120
MIFTS: 68

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 75 53 25 54 59 37 43 15 72
Steele-Richardson-Olszewski Syndrome 57 12 53 25 54 74
Supranuclear Palsy, Progressive 57 53 25 13 44
Progressive Supranuclear Ophthalmoplegia 12 25 29 6
Psp 57 53 25 74
Familial Progressive Supranuclear Palsy 53 72
Psnp1 57 74
Ophthalmoplegia, Supranuclear, Progressive 40
Progressive Supranuclear Palsy 1 74
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:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:678
OMIM 57 601104
KEGG 37 H00077
MeSH 44 D013494
NCIt 50 C85028
SNOMED-CT 68 28978003
ICD10 33 G23.1
MESH via Orphanet 45 D013494
ICD10 via Orphanet 34 G23.1
UMLS via Orphanet 73 C0038868
Orphanet 59 ORPHA683
UMLS 72 C0038868 C2931887

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. 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. Who is at risk for 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 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 perry syndrome, 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. The drugs Promethazine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are dysphagia and falls

Disease Ontology : 12 A movement disease that is 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. Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance. Progressive supranuclear palsy is also characterized by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze. Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behavior, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.

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.

KEGG : 37
Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauophaties caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Although the majority of cases of progressive supranuclear palsy appear to be sporadic, the scarcity of familial cases may lack of recognition of the variable phenotypic expression of PSP. One in every 100,000 Americans over the age of 60 have PSP and patients are usually middle-aged or elderly, and men are affected more often than women.

UniProtKB/Swiss-Prot : 74 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 : 75 Progressive supranuclear palsy (PSP), also known as Steele-Richardson-Olszewski syndrome, is a... 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 351)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 33.3 RPS27A MAPT GRN
2 perry syndrome 32.2 TH SNCA SLC6A3 GRN
3 postencephalitic parkinson disease 31.7 SNCA MAPT LRRK2
4 corticobasal degeneration 31.6 RPS27A MAPT LRRK2
5 akinetic mutism 31.3 SLC6A3 MAPT
6 pure autonomic failure 31.3 TH SNCA ACHE
7 mutism 31.2 SLC6A3 GRN
8 essential tremor 31.2 SNCA SLC6A3 PRKN LRRK2
9 cerebral amyloid angiopathy, cst3-related 31.1 MAPT APP APOE
10 brain injury 30.9 MAPT DRD2 APOE
11 hereditary late-onset parkinson disease 30.9 SNCA LRRK2
12 tremor 30.8 SNCA PRKN MAPT LRRK2
13 primary lateral sclerosis, adult, 1 30.8 SNCA MAPT
14 nominal aphasia 30.8 MAPT GRN
15 speech and communication disorders 30.8 MAPT GRN APOE
16 leukoencephalopathy, hereditary diffuse, with spheroids 30.8 SNCA RPS27A MAPT APP
17 machado-joseph disease 30.8 SNCA SLC6A3 RPS27A
18 striatonigral degeneration 30.7 SNCA SLC6A3 DRD2
19 rem sleep behavior disorder 30.7 SNCA SLC6A3 RPS27A LRRK2 ACHE
20 progressive non-fluent aphasia 30.7 MAPT GRN
21 ideomotor apraxia 30.6 MAPT GRN
22 parkinson disease 10 30.6 SNCA PRKN PARK7 LRRK2
23 behavioral variant of frontotemporal dementia 30.6 MAPT GRN
24 agraphia 30.6 MAPT GRN ACHE
25 major depressive disorder 30.5 SLC6A3 DRD2 CRHR1 APOE
26 binswanger's disease 30.5 MAPT APP APOE ACHE
27 semantic dementia 30.5 RPS27A MAPT GRN APOE
28 dystonia 30.4 TH SLC6A3 PRKN DRD2
29 multiple system atrophy 1 30.3 TH SNCA SLC6A3 RPS27A PRKN MAPT
30 cerebrovascular disease 30.2 MAPT APP APOE ACHE
31 vascular dementia 30.2 MAPT CHAT APP APOE ACHE
32 mood disorder 30.2 TH DRD2 CRHR1
33 delusional disorder 30.1 TH DRD2
34 aphasia 30.0 SNCA MAPT GRN APP APOE
35 motor neuron disease 29.9 SNCA RPS27A MAPT GRN CHAT
36 alzheimer disease 29.7 SNCA MAPT GRN CHAT APP APOE
37 frontotemporal dementia 29.7 SNCA RPS27A MAPT LRRK2 GRN APP
38 movement disease 29.6 TH SNCA SLC6A3 PRKN PARK7 MAPT
39 pick disease of brain 29.4 SNCA RPS27A MAPT GRN CHAT APP
40 amyotrophic lateral sclerosis 1 29.2 TH SNCA RPS27A NEFL MAPT GRN
41 dementia, lewy body 28.6 TH SNCA SLC6A3 RPS27A PRKN PARK7
42 dementia 28.2 SNCA SLC6A3 PRKN PARK7 MAPT LRRK2
43 parkinson disease, late-onset 28.1 TH SNCA SLC6A3 PRKN PARK7 NDUFS4
44 supranuclear palsy, progressive, 2 12.6
45 supranuclear palsy, progressive, 3 12.6
46 pneumothorax, primary spontaneous 12.0
47 parkinson-dementia syndrome 11.8
48 swallowing disorders 11.7
49 pneumothorax 11.4
50 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.3

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

Human phenotypes related to Supranuclear Palsy, Progressive, 1:

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

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

UMLS symptoms related to Supranuclear Palsy, Progressive, 1:


seizures, tremor, photophobia, back pain, ophthalmoplegia, pain, headache, bradykinesia, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness, forgetful, muscle rigidity, 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 10.5 ACHE APOE APP CBSL CHAT CRHR1
2 homeostasis/metabolism MP:0005376 10.41 ACHE APOE APP CBSL CHAT CRHR1
3 growth/size/body region MP:0005378 10.38 ACHE APOE APP CBSL CHAT DRD2
4 cellular MP:0005384 10.36 APOE APP CBSL DRD2 GRN LRRK2
5 cardiovascular system MP:0005385 10.34 APOE APP CBSL CHAT CRHR1 DRD2
6 mortality/aging MP:0010768 10.33 ACHE APOE APP CBSL CHAT CRHR1
7 nervous system MP:0003631 10.33 ACHE APOE APP CBSL CHAT CRHR1
8 hematopoietic system MP:0005397 10.22 ACHE APOE APP CBSL DRD2 GRN
9 integument MP:0010771 10.22 APOE APP CBSL DRD2 LRRK2 MAPT
10 immune system MP:0005387 10.19 APOE APP CBSL DRD2 GRN LRRK2
11 muscle MP:0005369 10.13 ACHE APOE APP CBSL CHAT DRD2
12 no phenotypic analysis MP:0003012 10.11 ACHE APOE APP CRHR1 DRD2 GRN
13 normal MP:0002873 10.1 APP CHAT CRHR1 DRD2 LRRK2 MAPT
14 reproductive system MP:0005389 9.91 ACHE APOE APP CBSL CHAT DRD2
15 respiratory system MP:0005388 9.85 ACHE APOE CBSL CHAT CRHR1 DRD2
16 taste/olfaction MP:0005394 9.35 APOE DRD2 MAPT SLC6A3 SNCA
17 vision/eye MP:0005391 9.28 ACHE APOE CBSL CHAT CRHR1 GRN

Drugs & Therapeutics for Supranuclear Palsy, Progressive, 1

Drugs for Supranuclear Palsy, Progressive, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Promethazine Approved, Investigational Phase 4 60-87-7 4927
2
tannic acid Approved Phase 4 1401-55-4
3
Suvorexant Approved, Investigational Phase 4 1030377-33-3
4
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
5
Zolpidem Approved Phase 4 82626-48-0 5732
6
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
7
Iodine Approved, Investigational Phase 4 7553-56-2 807
8 Central Nervous System Depressants Phase 4
9 GABA Agents Phase 4
10 GABA-A Receptor Agonists Phase 4
11 Orexin Receptor Antagonists Phase 4
12 GABA Agonists Phase 4
13 Hypnotics and Sedatives Phase 4
14 Pharmaceutical Solutions Phase 4
15 Calamus Phase 4
16 cadexomer iodine Phase 4
17
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
18
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
19
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
20
Rasagiline Approved Phase 3 136236-51-6 3052776
21
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
22
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
23 Ubiquinone Phase 2, Phase 3
24 Vitamins Phase 2, Phase 3
25 Micronutrients Phase 2, Phase 3
26 Nutrients Phase 2, Phase 3
27 Trace Elements Phase 2, Phase 3
28 Anti-Infective Agents Phase 3
29 Anti-Bacterial Agents Phase 3
30 Cholinesterase Inhibitors Phase 3
31 Cholinergic Agents Phase 3
32 Tranquilizing Agents Phase 3
33 Psychotropic Drugs Phase 3
34 Antiparkinson Agents Phase 3
35 Serotonin Antagonists Phase 3
36 Serotonin 5-HT2 Receptor Antagonists Phase 3
37 Serotonin Agents Phase 3
38 Antipsychotic Agents Phase 3
39 Neurotransmitter Agents Phase 3
40 Anticonvulsants Phase 3
41 Neuroprotective Agents Phase 3
42 Monoamine Oxidase Inhibitors Phase 3
43 Protective Agents Phase 3
44 Excitatory Amino Acid Antagonists Phase 3
45 Excitatory Amino Acids Phase 3
46
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
47
Donepezil Approved Phase 2 120014-06-4 3152
48
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
49
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
50
Dopamine Approved Phase 2 51-61-6, 62-31-7 681

Interventional clinical trials:

(show top 50) (show all 109)
# Name Status NCT ID Phase Drugs
1 Treatment of Disturbed Sleep in Progressive Supranuclear Palsy (PSP) Recruiting NCT04014387 Phase 4 Suvorexant;Zolpidem;Placebo oral capsule
2 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
3 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
4 A Phase 2/3, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3 Davunetide;Placebo
5 Effects of Coenzyme Q10 in PSP and CBD, A Randomized, Placebo-Controlled, Double Blind Cross Over Pilot Study Completed NCT00532571 Phase 2, Phase 3 CoQ10
6 Double-Blind, Randomised, Two-Armed Study for the Evaluation of Efficacy and Safety of Minocycline for Treatment Completed NCT00146809 Phase 3 Minocyline
7 RIVA-PSP: Efficacy of Rivastigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy: A Randomised Double Blind Placebo-controlled Clinical Trial Recruiting NCT02839642 Phase 3 Rivastigmine;Placebo
8 A Double-blind, Placebo-controlled, Relapse Prevention Study of Pimavanserin for the Treatment of Hallucinations and Delusions Associated With Dementia-related Psychosis Recruiting NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
9 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Assess the Efficacy, Safety and Tolerability of Rasagiline in Subjects With Progressive Supranuclear Palsy (Phase III) Terminated NCT01187888 Phase 3 Rasagiline;Sugar pill
10 Phase 3 Study of Riluzole in Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) (Parkinson's Plus Syndromes) Terminated NCT00211224 Phase 3 Riluzole
11 Study of the Distractibility Syndrome in Patients With Progressive Supranuclear Palsy Unknown status NCT00139373 Phase 2 donepezil
12 Rivastigmine (Exelon®) for Treatment of Dementia in Patient With Progressive Supranuclear Paresis Open Label Phase 2 Study Unknown status NCT00522015 Phase 2 rivastigmine
13 Autologous Mesenchymal Stem Cell Therapy in Progressive Supranuclear Palsy: a Randomized, Double-blind, Controlled Clinical Trial Unknown status NCT01824121 Phase 1, Phase 2
14 Novel Neuroimage Study in Tauopathies With Parkinsonism Unknown status NCT03386669 Phase 2 F-18
15 Mono-Center, Prospective, Double-Blind, Placebo-Controlled, Randomized Clinical Phase IIa Trial to Assess the Safety, Tolerability, and Immediate Biological Effects of Coenzyme Q10 - nanoQuinon® in Progressive Supranuclear Palsy Completed NCT00328874 Phase 2 Coenzyme Q10
16 Randomized Placebo-controlled Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy Completed NCT00385710 Phase 2 valproic acid;Placebo
17 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2 Lithium
18 Dose-Escalation Trial of Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor for the Treatment of PSP Completed NCT00005903 Phase 2 GDNF & Synchro Med Infusion System
19 An Open-label Trial of Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear Palsy (PSP): Effect Upon Oxidative Damage and Mitochondrial Biomarkers Completed NCT01537549 Phase 1, Phase 2 alpha-lipoic acid and L-acetyl carnitine
20 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography With Vesicular Monoamine Transporter Ligand (18F-DTBZ) Completed NCT01824056 Phase 2 18F-FDG
21 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
22 The Effect of Adrenergic Blocker Therapy on Cardiac and Striatal Transporter Uptake in Pre-Motor and Symptomatic Parkinson's Disease Recruiting NCT03775096 Phase 2 Carvedilol
23 A Randomized, Double-Blind, Placebo-Controlled Multiple Dose Study to Assess Efficacy, Safety, Tolerability, and Pharmacokinetics of ABBV-8E12 in Progressive Supranuclear Palsy Active, not recruiting NCT02985879 Phase 2 placebo;ABBV-8E12
24 An Extension Study of ABBV-8E12 in Progressive Supranuclear Palsy (PSP) Active, not recruiting NCT03391765 Phase 2 ABBV-8E12
25 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Intravenously Administered BIIB092 in Participants With Progressive Supranuclear Palsy Active, not recruiting NCT03068468 Phase 2 BIIB092;Placebo
26 A Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Assess Tolerability, Safety, Pharmacokinetics and Effect of AZP2006 on Cerebrospinal Fluid Biomarkers in 36 Patients With Progressive Supranuclear Palsy Not yet recruiting NCT04008355 Phase 2 AZP2006 oral solution;Placebo oral solution
27 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Not yet recruiting NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
28 A Double-Blind, Placebo Controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of C2N-8E12 in Subjects With Progressive Supranuclear Palsy Completed NCT02494024 Phase 1 Single dose C2N-8E12;Single dose placebo
29 18F-AV-1451 Injection for Brain Imaging of Tau in Subjects With Progressive Supranuclear Palsy (PSP), Subjects With Corticobasal Degeneration (CBD) and Healthy Volunteers" Completed NCT02167594 Phase 1 18F-AV-1451;florbetapir F18
30 A Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending Dose Study of Intravenously Administered BMS-986168 in Patients With Progressive Supranuclear Palsy Completed NCT02460094 Phase 1 BIIB092;Placebo
31 A 12 Week Randomized, Double Blind, Placebo-Controlled Pilot Study of Davunetide (NAP, AL-108) in Predicted Tauopathies Completed NCT01056965 Phase 1 davunetide (AL-108, NAP);Placebo nasal spray
32 Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Clinically Diagnosed Tauopathies in Comparison to Healthy Subjects Completed NCT02103894 Phase 1 [18F]T807 ([18F]MNI-777)
33 Pilot Study: Open Label Treatment With tDCS for Parkinson's and Related Disorders for Improvement of Speech, Gait and Mood Completed NCT02104401 Phase 1
34 Phase 1 Test-retest Evaluation of [18F]MNI-958 PET as an Imaging Marker for Tau Protein in the Brain of Patients With Alzheimer's Disease and Probable PSP as Compared to Healthy Volunteers Recruiting NCT03545789 Phase 1 [18F]MNI-958
35 Alzheimer's PET Imaging in Racially/Ethnically Diverse Adults Recruiting NCT03706261 Phase 1 18F-MK-6240;18F-Florbetaben
36 Extension Study of ABBV-8E12 in Patients With Progressive Supranuclear Palsy (PSP) Who Completed Study C2N-8E12-WW-104 Active, not recruiting NCT03413319 Phase 1 ABBV-8E12
37 A Multicenter, Open-Label, Long-Term Treatment Study of Intravenously Administered BIIB092 in Patients With Progressive Supranuclear Palsy Who Participated in Study CN002003 Active, not recruiting NCT02658916 Phase 1 BIIB092
38 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Monthly Young Healthy Male Donor Plasma Transfusions for Progressive Supranuclear Palsy Active, not recruiting NCT02460731 Phase 1
39 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear Palsy Active, not recruiting NCT02422485 Phase 1 Salsalate
40 A Phase 1, Randomized, Double-Blind, Placebo-Controlled, Sequential Cohort, Dose-Ranging Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of TPI 287 in Patients With Primary Four Repeat Tauopathies: Corticobasal Syndrome or Progressive Supranuclear Palsy Active, not recruiting NCT02133846 Phase 1 TPI 287 2 mg/m2;TPI-287 20 mg/m2;Placebo;TPI-287 6.3 mg/m2
41 Foot Mechanical Stimulation for Treatment of Gait and Gait Related Disorders in Parkinson's Disease Unknown status NCT01815281
42 Postural Instability in Progressive Supranuclear Palsy: Why do Patients With PSP Fall? Unknown status NCT01563276
43 Blood Alpha-Synuclein, Gene Expression, and Smell Testing as Diagnostic and Prognostic Biomarkers in Parkinson's Disease Unknown status NCT00653783
44 Validation of DaTscan for Detection of Parkinsonian Disease and Related Disorders Using Neuropathologically-confirmed Parkinson Disease From Human Brain Tissue Unknown status NCT02138682 l-123 Ioflupane
45 Observational Study Assessing the Diagnostic Contribution of 3-Tesla MRI, CSF Analysis and a Second Opinion in a Specialized Movement Disorder Centre, in Differentiating Between Parkinson's Disease and Atypical Parkinsonism Unknown status NCT01249768
46 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
47 High Field MR Imaging (7T and 3T) of the Brainstem, the Deep Nuclei and Their Connections in the Parkinsonian Syndromes. Applications to Prognosis, Pathophysiology and Improvement of Therapeutic Strategies Unknown status NCT01085253
48 Analysis of the Enteric Nervous System Using Colonic Biopsies: a Useful Biomarker for the Differential Diagnosis of Parkinsonian Syndromes? Completed NCT01353183
49 Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP): A Multicenter, Randomized, Placebo-controlled, Double Blind Study Completed NCT00382824
50 A Double-Blind, Placebo-Controlled, Randomized, Parallel-Group Study Evaluating the Safety, Tolerability, and Efficacy of Two Different Oral Doses of NP031112, a GSK-3 Inhibitor, Versus Placebo in the Treatment of Patients With Mild-to-Moderate Progressive Supranuclear Palsy Completed NCT01049399 tideglusib;tideglusib;placebo

Search 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, Thalamus, Spinal Cord

Publications for Supranuclear Palsy, Progressive, 1

Articles related to Supranuclear Palsy, Progressive, 1:

(show top 50) (show all 3701)
# Title Authors PMID Year
1
Familial aggregation of parkinsonism in progressive supranuclear palsy. 9 38 8 71
19458322 2009
2
A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. 9 38 8 71
16157753 2005
3
An English kindred with a novel recessive tauopathy and respiratory failure. 8 71
14595660 2003
4
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. 9 38 8
16195395 2005
5
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. 9 38 8
15792962 2005
6
An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. 9 38 8
12325083 2002
7
Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy. 9 38 8
11445645 2001
8
Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE. 9 38 8
11134398 2000
9
Untangling tau-related dementia. 9 38 71
10767321 2000
10
Mutational analysis of the tau gene in progressive supranuclear palsy. 9 38 8
10534245 1999
11
Association of an extended haplotype in the tau gene with progressive supranuclear palsy. 9 38 8
10072441 1999
12
A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration. 9 38 8
9932968 1999
13
Direct genetic evidence for involvement of tau in progressive supranuclear palsy. European Study Group on Atypical Parkinsonism Consortium. 9 38 8
9781517 1998
14
Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. 9 38 8
9708963 1998
15
Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene. 9 38 8
9443491 1998
16
Reelin expression and glycosylation patterns are altered in Alzheimer's disease. 38 8
16567613 2006
17
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies. 38 8
16432153 2006
18
Rates of cerebral atrophy in autopsy-confirmed progressive supranuclear palsy. 38 8
16278856 2006
19
Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. 38 8
16157754 2005
20
The structure of the tau haplotype in controls and in progressive supranuclear palsy. 38 8
15115761 2004
21
Pick Complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. 38 8
14629785 2003
22
Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy. 38 8
12913211 2003
23
Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study. 38 8
12654952 2003
24
Familial progressive supranuclear palsy: detection of subclinical cases using 18F-dopa and 18fluorodeoxyglucose positron emission tomography. 38 8
11708994 2001
25
An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy. 38 8
11087782 2000
26
MAPT-Related Disorders 38 71
20301678 2000
27
Clinical genetics of familial progressive supranuclear palsy. 38 8
10388790 1999
28
Genetic evidence for the involvement of tau in progressive supranuclear palsy. 38 8
9029080 1997
29
Follow-up study of risk factors in progressive supranuclear palsy. 38 8
8710069 1996
30
Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. 38 8
7496773 1995
31
PROGRESSIVE SUPRANUCLEAR PALSY. A HETEROGENEOUS DEGENERATION INVOLVING THE BRAIN STEM, BASAL GANGLIA AND CEREBELLUM WITH VERTICAL GAZE AND PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA. 38 8
14107684 1964
32
Thalamic and cerebellar hypoperfusion in single photon emission computed tomography may differentiate multiple system atrophy and progressive supranuclear palsy. 38 17
31348305 2019
33
Pyramidal system involvement in progressive supranuclear palsy - a clinicopathological correlation. 38 17
30894142 2019
34
Electrophysiological and clinical assessment of dysautonomia in multiple system atrophy (MSA) and progressive supranuclear palsy (PSP): a comparative study. 38 17
30620042 2019
35
Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. 71
11402146 2001
36
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. 71
11255441 2001
37
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. 71
9789048 1998
38
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 8
9641683 1998
39
Tau is a candidate gene for chromosome 17 frontotemporal dementia. 71
9629852 1998
40
Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse. 9 38
20498436 2010
41
Curcumin labeling of neuronal fibrillar tau inclusions in human brain samples. 9 38
20448485 2010
42
Protein targets of oxidative damage in human neurodegenerative diseases with abnormal protein aggregates. 9 38
19725834 2010
43
Consecutive analyses of cerebrospinal fluid axonal and glial markers in Parkinson's disease and atypical Parkinsonian disorders. 9 38
19647470 2010
44
Screening for LRRK2 R1441 mutations in a cohort of PSP patients from Germany. 9 38
19538213 2009
45
Biological fluid biomarkers in neurodegenerative parkinsonism. 9 38
19724250 2009
46
TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing. 9 38
19330339 2009
47
Transmission and spreading of tauopathy in transgenic mouse brain. 9 38
19503072 2009
48
H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers. 9 38
18854867 2009
49
5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. 9 38
19022385 2009
50
Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus. 9 38
17602795 2008

Variations for Supranuclear Palsy, Progressive, 1

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MAPT NM_016835.4(MAPT): c.1853C> T (p.Pro618Leu) single nucleotide variant Pathogenic rs63751273 17:44087755-44087755 17:46010389-46010389
2 MAPT NM_016835.4(MAPT): c.2167C> T (p.Arg723Trp) single nucleotide variant Pathogenic rs63750424 17:44101427-44101427 17:46024061-46024061
3 MAPT NM_016835.4(MAPT): c.1788T> G (p.Asn596Lys) single nucleotide variant Pathogenic rs63750756 17:44087690-44087690 17:46010324-46010324
4 MAPT NM_016835.4(MAPT): c.14G> T (p.Arg5Leu) single nucleotide variant Pathogenic rs63750959 17:44039717-44039717 17:45962351-45962351
5 MAPT NM_016835.4(MAPT): c.2006C> T (p.Ser669Leu) single nucleotide variant Pathogenic rs63750425 17:44096041-44096041 17:46018675-46018675
6 MAPT NM_016835.4(MAPT): c.1859G> T (p.Gly620Val) single nucleotide variant Pathogenic rs63751391 17:44087761-44087761 17:46010395-46010395
7 MAPT NM_016835.4(MAPT): c.623del (p.Gly208fs) deletion Uncertain significance rs773149360 17:44060793-44060793 17:45983427-45983427
8 MAPT NM_016835.4(MAPT): c.664C> A (p.Arg222Ser) single nucleotide variant Uncertain significance 17:44060834-44060834 17:45983468-45983468
9 MAPT NM_016835.4(MAPT): c.890C> T (p.Ala297Val) single nucleotide variant Uncertain significance rs377402921 17:44061060-44061060 17:45983694-45983694
10 MAPT NM_016835.4(MAPT): c.47G> T (p.Gly16Val) single nucleotide variant Uncertain significance rs755131800 17:44039750-44039750 17:45962384-45962384

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

74
# Symbol AA change Variation ID SNP ID
1 MAPT p.Arg5Leu VAR_019661 rs63750959
2 MAPT p.Gly620Val VAR_037439 rs63751391

Expression for Supranuclear Palsy, Progressive, 1

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

Pathways for Supranuclear Palsy, Progressive, 1

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.25 TH SNCA SLC6A3 PRKN PARK7 NDUFS4
2 11.86 TH SNCA RPS27A PRKN PARK7 NEFL
3
Show member pathways
11.75 TH SLC6A3 DRD2
4 11.55 TH NEFL CHAT
5 11.36 TH SNCA SLC6A3 PRKN PARK7 LRRK2
6 11.26 MAPT APP APOE
7
Show member pathways
11.21 TH SLC6A3 ACHE
8 11.06 TH SNCA SLC6A3 PRKN PARK7
9
Show member pathways
10.89 TH CHAT ACHE
10 10.58 TH CHAT ACHE
11 10.57 RPS27A PRKN
12 10.3 CHAT ACHE

GO Terms for Supranuclear Palsy, Progressive, 1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.88 TH MAPT LRRK2 DRD2 APOE
2 neuronal cell body GO:0043025 9.73 TH SNCA SLC6A3 MAPT LRRK2 APOE
3 membrane raft GO:0045121 9.72 SLC6A3 PARK7 MAPT LRRK2 APP
4 neuromuscular junction GO:0031594 9.69 NEFL APP ACHE
5 synaptic vesicle membrane GO:0030672 9.67 SNCA LRRK2 DRD2
6 presynapse GO:0098793 9.67 SNCA PRKN PARK7 CHAT
7 neuron projection GO:0043005 9.61 TH SLC6A3 PRKN PARK7 NEFL MAPT
8 terminal bouton GO:0043195 9.58 TH SNCA LRRK2
9 growth cone GO:0030426 9.55 SNCA NEFL MAPT LRRK2 APP
10 synaptic cleft GO:0043083 9.54 APOE ACHE
11 dopaminergic synapse GO:0098691 9.52 SLC6A3 DRD2
12 main axon GO:0044304 9.46 MAPT APP
13 axon GO:0030424 9.28 TH SNCA SLC6A3 PARK7 NEFL MAPT
14 mitochondrial respiratory chain complex I GO:0005747 9.13 NDUFS4
15 mitochondrion GO:0005739 10.09 TH SNCA PRKN PARK7 NDUFS4 MAPT

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

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.95 PRKN PARK7 MAPT APP APOE
2 cellular protein metabolic process GO:0044267 9.92 SNCA RPS27A PRKN APP APOE
3 autophagy GO:0006914 9.91 PRKN PARK7 LRRK2 DRD2
4 response to ethanol GO:0045471 9.9 TH SLC6A3 DRD2
5 mitochondrion organization GO:0007005 9.88 PRKN PARK7 LRRK2
6 cellular response to oxidative stress GO:0034599 9.88 SNCA PARK7 LRRK2
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.87 SNCA PARK7 APP
8 response to oxidative stress GO:0006979 9.87 PRKN LRRK2 APP APOE
9 negative regulation of neuron apoptotic process GO:0043524 9.85 SNCA PRKN PARK7 NEFL APOE
10 negative regulation of cell death GO:0060548 9.83 PRKN PARK7 DRD2
11 excitatory postsynaptic potential GO:0060079 9.83 SNCA LRRK2 DRD2
12 positive regulation of protein binding GO:0032092 9.83 PRKN LRRK2 APP
13 regulation of autophagy GO:0010506 9.82 PRKN MAPT LRRK2
14 learning GO:0007612 9.81 TH PRKN APP
15 locomotory behavior GO:0007626 9.8 TH SLC6A3 PRKN DRD2 APP
16 synapse organization GO:0050808 9.78 SNCA MAPT APP
17 adult locomotory behavior GO:0008344 9.78 SNCA PRKN PARK7 APP
18 response to nicotine GO:0035094 9.76 TH SLC6A3 DRD2
19 response to cocaine GO:0042220 9.75 SNCA SLC6A3 DRD2
20 response to iron ion GO:0010039 9.72 SLC6A3 DRD2
21 positive regulation of long-term synaptic potentiation GO:1900273 9.72 DRD2 APP
22 startle response GO:0001964 9.72 PRKN DRD2
23 striatum development GO:0021756 9.72 LRRK2 DRD2
24 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.72 PARK7 LRRK2
25 negative regulation of protein phosphorylation GO:0001933 9.72 SNCA PRKN PARK7 LRRK2 DRD2
26 axon development GO:0061564 9.71 NEFL MAPT
27 prepulse inhibition GO:0060134 9.71 SLC6A3 DRD2
28 locomotory exploration behavior GO:0035641 9.71 LRRK2 APOE
29 cellular response to dopamine GO:1903351 9.71 PRKN LRRK2
30 regulation of long-term neuronal synaptic plasticity GO:0048169 9.71 SNCA DRD2 APP
31 supramolecular fiber organization GO:0097435 9.7 SNCA MAPT
32 virion assembly GO:0019068 9.7 RPS27A APOE
33 amyloid precursor protein metabolic process GO:0042982 9.69 APOE ACHE
34 regulation of dopamine metabolic process GO:0042053 9.69 SLC6A3 PRKN
35 negative regulation of long-term synaptic potentiation GO:1900272 9.69 APP APOE
36 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 PRKN PARK7 LRRK2
37 astrocyte activation GO:0048143 9.68 MAPT APP
38 regulation of locomotion GO:0040012 9.68 SNCA LRRK2
39 positive regulation of microglial cell activation GO:1903980 9.68 LRRK2 APP
40 negative regulation of voltage-gated calcium channel activity GO:1901386 9.68 DRD2 CRHR1
41 intracellular distribution of mitochondria GO:0048312 9.67 MAPT LRRK2
42 axonal transport of mitochondrion GO:0019896 9.67 NEFL MAPT
43 amyloid fibril formation GO:1990000 9.67 MAPT APP
44 dopamine metabolic process GO:0042417 9.67 SNCA PRKN DRD2
45 adenohypophysis development GO:0021984 9.66 SLC6A3 DRD2
46 negative regulation of neuron death GO:1901215 9.65 SNCA PRKN PARK7 LRRK2 APOE
47 regulation of mitochondrial fission GO:0090140 9.64 MAPT LRRK2
48 mating behavior GO:0007617 9.64 TH APP
49 protein localization to mitochondrion GO:0070585 9.63 PRKN LRRK2
50 positive regulation of autophagy of mitochondrion GO:1903599 9.62 PRKN PARK7

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 9.91 PARK7 MAPT LRRK2 DRD2 APOE ACHE
2 enzyme binding GO:0019899 9.73 TH SNCA PRKN PARK7 MAPT APP
3 tubulin binding GO:0015631 9.58 PRKN MAPT LRRK2
4 ubiquitin-specific protease binding GO:1990381 9.46 PRKN PARK7
5 lipoprotein particle binding GO:0071813 9.37 MAPT APOE
6 phospholipase binding GO:0043274 9.33 SNCA PRKN NEFL
7 cuprous ion binding GO:1903136 9.32 SNCA PARK7
8 identical protein binding GO:0042802 9.28 SNCA PRKN PARK7 NEFL MAPT LRRK2
9 dopamine binding GO:0035240 9.13 TH SLC6A3 DRD2

Sources for Supranuclear Palsy, Progressive, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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