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 56
Progressive Supranuclear Palsy 12 74 52 25 53 58 36 42 15 71
Steele-Richardson-Olszewski Syndrome 56 12 52 25 53 73
Supranuclear Palsy, Progressive 56 52 25 13 43
Progressive Supranuclear Ophthalmoplegia 12 25 29 6
Psp 56 52 25 73
Familial Progressive Supranuclear Palsy 52 71
Psnp1 56 73
Ophthalmoplegia, Supranuclear, Progressive 39
Progressive Supranuclear Palsy 1 73
Supranuclear Palsy Progressive 54
Richardson's Syndrome 25
Psp Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

31
supranuclear palsy, progressive, 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Supranuclear Palsy, Progressive, 1

MedlinePlus : 42 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)? The cause of PSP is unknown. 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, photophobia and tremor. An important gene associated with Supranuclear Palsy, Progressive, 1 is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Parkinson disease and Circadian entrainment. The drugs Promethazine and Suvorexant have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are dysphagia and unsteady gait

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 : 52 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 : 56 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 : 53 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 : 36 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 : 73 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 : 74 Progressive supranuclear palsy (PSP) is a degenerative disease involving the gradual deterioration and... 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 388)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 33.6 RPS27A MAPT
2 perry syndrome 33.3 TH SNCA MAPT
3 corticobasal degeneration 31.8 RPS27A MAPT LRRK2
4 pure autonomic failure 31.7 TH SNCA ACHE
5 mutism 31.6 SLC6A3 PRNP MAPT
6 postencephalitic parkinson disease 31.5 TH SNCA SLC6A3 PRKN PARK7 MAPT
7 essential tremor 31.5 SNCA SLC6A3 PRKN MAPT LRRK2
8 olivopontocerebellar atrophy 31.4 TH SNCA SLC6A3 RPS27A MAPT CHAT
9 rem sleep behavior disorder 31.4 SNCA SLC6A3 RPS27A PRKN MAPT LRRK2
10 akinetic mutism 31.4 SNCA SLC6A3 PRNP MAPT
11 cerebral amyloid angiopathy, cst3-related 31.4 SNCA PRNP MAPT APP APOE
12 tremor 31.4 SNCA PRKN MAPT LRRK2
13 alzheimer disease 10 31.3 MAPT APOE ACHE
14 agraphia 31.2 PRNP MAPT ACHE
15 restless legs syndrome 31.2 TH SNCA SLC6A3 PRKN MAPT DRD2
16 apraxia 31.2 SLC6A3 MAPT APOE
17 huntington disease 31.2 TH SNCA SLC6A3 RPS27A PRNP MIR132
18 frontotemporal dementia 31.1 SNCA RPS27A PRNP NEFL MAPT LRRK2
19 autosomal dominant cerebellar ataxia 31.1 SNCA PRKN MAPT LRRK2 APP
20 multiple system atrophy 1 31.1 TH SNCA SLC6A3 RPS27A PRNP PRKN
21 nominal aphasia 31.0 MAPT APOE ACHE
22 posterior cortical atrophy 31.0 MAPT APOE
23 speech and communication disorders 31.0 SNCA SLC6A3 MAPT DRD2 APP APOE
24 semantic dementia 31.0 RPS27A MAPT APOE
25 primary lateral sclerosis, adult, 1 31.0 SNCA MAPT
26 parkinson disease 10 31.0 SNCA PRKN PARK7 LRRK2
27 hydrocephalus 31.0 SLC6A3 PRKN MAPT APP APOE
28 binswanger's disease 31.0 MAPT APP APOE ACHE
29 dystonia 31.0 TH SLC6A3 PRKN PARK7 LRRK2 DRD2
30 leukoencephalopathy, hereditary diffuse, with spheroids 31.0 SNCA RPS27A PRNP PRKN MAPT CHAT
31 cerebral degeneration 31.0 SNCA MAPT APP APOE
32 mental depression 30.9 SLC6A3 DRD2 CRHR1
33 machado-joseph disease 30.9 SNCA SLC6A3 RPS27A PRKN APOE
34 mood disorder 30.9 TH SLC6A3 MIR132 DRD2 CRHR1
35 amnestic disorder 30.8 MAPT DRD2 CHAT APP APOE ACHE
36 sleep disorder 30.8 TH SNCA SLC6A3 MAPT LRRK2 DRD2
37 creutzfeldt-jakob disease 30.8 SNCA SLC6A3 PRNP PARK7 MAPT APP
38 peripheral nervous system disease 30.8 SNCA PRKN NEFL LRRK2 APP ACHE
39 delusional disorder 30.8 TH SLC6A3 DRD2
40 neuroblastoma 30.8 TH SNCA PRNP PRKN MAPT CHAT
41 striatonigral degeneration 30.8 TH SNCA SLC6A3 DRD2
42 major depressive disorder 30.8 SLC6A3 MIR132 DRD2 CRHR1 APOE
43 personality disorder 30.8 TH SLC6A3 DRD2 CRHR1
44 hereditary late-onset parkinson disease 30.8 SNCA LRRK2
45 vascular dementia 30.8 PRNP NEFL MAPT CHAT APP APOE
46 gerstmann-straussler disease 30.7 SNCA PRNP MAPT LRRK2 APP
47 normal pressure hydrocephalus 30.7 MAPT APP APOE
48 movement disease 30.7 TH SNCA SLC6A3 PRKN PARK7 MIR132
49 aphasia 30.7 SNCA PRNP MAPT LRRK2 APP APOE
50 cerebrovascular disease 30.7 MIR132 MAPT APP APOE ACHE

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:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 unsteady gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002317
3 impulsivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0100710
4 supranuclear ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000623
5 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
6 neuronal loss in central nervous system 58 31 hallmark (90%) Very frequent (99-80%) HP:0002529
7 falls 58 31 hallmark (90%) Very frequent (99-80%) HP:0002527
8 abnormal synaptic transmission 58 31 hallmark (90%) Very frequent (99-80%) HP:0012535
9 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
10 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
11 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
12 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
13 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
14 aphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002381
15 vertical supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000511
16 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
17 slow saccadic eye movements 58 31 frequent (33%) Frequent (79-30%) HP:0000514
18 gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002171
19 pseudobulbar signs 58 31 frequent (33%) Frequent (79-30%) HP:0002200
20 tremor 58 31 very rare (1%) Occasional (29-5%) HP:0001337
21 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
22 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
23 limb dystonia 31 very rare (1%) HP:0002451
24 frontal release signs 31 very rare (1%) HP:0000743
25 supranuclear gaze palsy 58 31 Very frequent (99-80%) HP:0000605
26 cognitive impairment 58 Frequent (79-30%)
27 photophobia 31 HP:0000613
28 irritability 31 HP:0000737
29 abnormality of eye movement 58 Occasional (29-5%)
30 dysarthria 31 HP:0001260
31 gait imbalance 31 HP:0002141
32 dystonia 58 Frequent (79-30%)
33 diplopia 31 HP:0000651
34 apathy 31 HP:0000741
35 axial dystonia 31 HP:0002530
36 akinesia 31 HP:0002304
37 mutism 31 HP:0002300
38 blurred vision 31 HP:0000622
39 parkinsonism 31 HP:0001300
40 neurofibrillary tangles 31 HP:0002185
41 eyelid apraxia 31 HP:0000658
42 neuronal loss in basal ganglia 31 HP:0200147
43 frontolimbic dementia 31 HP:0002439
44 granulovacuolar degeneration 31 HP:0002528
45 retrocollis 31 HP:0002544

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
diplopia
blurred vision
supranuclear gaze palsy
eyelid apraxia

Neurologic Behavioral Psychiatric Manifestations:
irritability
apathy
forgetfulness
frontal release signs (45%)

Abdomen Gastrointestinal:
dysphagia

Neurologic Central Nervous System:
dysarthria
gait imbalance
rigidity
axial dystonia
akinesia
more

Clinical features from OMIM:

601104

UMLS symptoms related to Supranuclear Palsy, Progressive, 1:


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

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

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.43 ACHE APOE APP CDK5 CHAT CRHR1
2 homeostasis/metabolism MP:0005376 10.33 ACHE APOE APP CDK5 CHAT CRHR1
3 growth/size/body region MP:0005378 10.26 ACHE APOE APP CHAT DRD2 MAPT
4 mortality/aging MP:0010768 10.25 ACHE APOE APP CDK5 CHAT CRHR1
5 cellular MP:0005384 10.24 APOE APP DRD2 LRRK2 MAPT PARK7
6 nervous system MP:0003631 10.22 ACHE APOE APP CDK5 CHAT CRHR1
7 cardiovascular system MP:0005385 10.21 APOE APP CHAT CRHR1 DRD2 LRRK2
8 integument MP:0010771 10.17 APOE APP CDK5 DRD2 LRRK2 MAPT
9 no phenotypic analysis MP:0003012 10.03 ACHE APOE APP CDK5 CRHR1 DRD2
10 muscle MP:0005369 10.02 ACHE APOE APP CHAT DRD2 MAPT
11 normal MP:0002873 9.97 APP CDK5 CHAT CRHR1 DRD2 LRRK2
12 respiratory system MP:0005388 9.61 ACHE APOE CDK5 CHAT CRHR1 DRD2
13 taste/olfaction MP:0005394 9.02 APOE DRD2 MAPT SLC6A3 SNCA

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 119)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Promethazine Approved, Investigational Phase 4 60-87-7 4927
2
Suvorexant Approved, Investigational Phase 4 1030377-33-3
3
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
4
tannic acid Approved Phase 4 1401-55-4
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 GABA Agonists Phase 4
9 Hypnotics and Sedatives Phase 4
10 Pharmaceutical Solutions Phase 4
11 Calamus Phase 4
12 cadexomer iodine Phase 4
13
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
14
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
15
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
16
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
17
Rasagiline Approved Phase 3 136236-51-6 3052776
18
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
19
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
20 Cholinesterase Inhibitors Phase 3
21 Cholinergic Agents Phase 3
22 Trace Elements Phase 2, Phase 3
23 Vitamins Phase 2, Phase 3
24 Nutrients Phase 2, Phase 3
25 Micronutrients Phase 2, Phase 3
26 Ubiquinone Phase 2, Phase 3
27 Psychotropic Drugs Phase 3
28 Antiparkinson Agents Phase 3
29 Antipsychotic Agents Phase 3
30 Neurotransmitter Agents Phase 3
31 Anticonvulsants Phase 3
32 Neuroprotective Agents Phase 3
33 Monoamine Oxidase Inhibitors Phase 3
34 Protective Agents Phase 3
35 Excitatory Amino Acid Antagonists Phase 3
36
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
37
Donepezil Approved Phase 2 120014-06-4 3152
38
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
39
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
40
Acetylcarnitine Approved, Investigational Phase 1, Phase 2 3040-38-8 7045767
41
Memantine Approved, Investigational Phase 2 19982-08-2 4054
42
Carvedilol Approved, Investigational Phase 2 72956-09-3 2585
43
Tolfenamic acid Approved, Investigational Phase 1, Phase 2 13710-19-5 610479
44
Droxidopa Approved, Investigational Phase 2 23651-95-8 443940
45
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
46
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
47 Anesthetics Phase 1, Phase 2
48 ABBV-8E12 Phase 2
49 Antidepressive Agents Phase 1, Phase 2
50 Dopamine Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 118)
# 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 RIVA-PSP: Efficacy of Rivastigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy: A Randomised Double Blind Placebo-controlled Clinical Trial Unknown status NCT02839642 Phase 3 Rivastigmine;Placebo
5 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
6 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
7 A Double-blind, Placebo-controlled, Relapse Prevention Study of Pimavanserin for the Treatment of Hallucinations and Delusions Associated With Dementia-related Psychosis Completed NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
8 Double-Blind, Randomised, Two-Armed Study for the Evaluation of Efficacy and Safety of Minocycline for Treatment Completed NCT00146809 Phase 3 Minocyline
9 A Multicentre, Phase 3, Clinical Study to Compare the Striatal Uptake of a Dopamine Transporter Radioligand, DaTSCAN™ Ioflupane (123I) Injection, After Intravenous Administration to Chinese Patients With a Diagnosis of Parkinson's Disease, Multiple System Atrophy, Progressive Supranuclear Palsy, or Essential Tremor and to Healthy Controls Not yet recruiting NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
10 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
11 Phase 3 Study of Riluzole in Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) (Parkinson's Plus Syndromes) Terminated NCT00211224 Phase 3 Riluzole
12 Study of the Distractibility Syndrome in Patients With Progressive Supranuclear Palsy Unknown status NCT00139373 Phase 2 donepezil
13 Rivastigmine (Exelon®) for Treatment of Dementia in Patient With Progressive Supranuclear Paresis Open Label Phase 2 Study Unknown status NCT00522015 Phase 2 rivastigmine
14 Autologous Mesenchymal Stem Cell Therapy in Progressive Supranuclear Palsy: a Randomized, Double-blind, Controlled Clinical Trial Unknown status NCT01824121 Phase 1, Phase 2
15 Novel Neuroimage Study in Tauopathies With Parkinsonism Unknown status NCT03386669 Phase 2 F-18
16 An Extension Study of ABBV-8E12 in Progressive Supranuclear Palsy (PSP) Completed NCT03391765 Phase 2 ABBV-8E12
17 A Randomized, Double-Blind, Placebo-Controlled Multiple Dose Study to Assess Efficacy, Safety, Tolerability, and Pharmacokinetics of ABBV-8E12 in Progressive Supranuclear Palsy Completed NCT02985879 Phase 2 placebo;ABBV-8E12
18 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
19 Randomized Placebo-controlled Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy Completed NCT00385710 Phase 2 valproic acid;Placebo
20 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2 Lithium
21 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
22 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
23 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
24 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
25 A Pilot Exploratory, Randomised, Placebo-controlled, Double Blinded, Cross-over , Phase 2a Study to Explore Efficacy and Safety of NBMI Treatment in Patients With Progressive Supranuclear Palsy (PSP) or Multiple System Atrophy (MSA) Recruiting NCT04184063 Phase 2 NBMI
26 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
27 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
28 A Phase 2a Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety and Efficacy of Tolfenamic Acid for the Treatment of Progressive Supranuclear Palsy Not yet recruiting NCT04253132 Phase 1, Phase 2 Tolfenamic Acid;Placebos
29 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Not yet recruiting NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
30 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 Terminated NCT03068468 Phase 2 BIIB092;Placebo
31 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear Palsy Unknown status NCT02422485 Phase 1 Salsalate
32 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
33 Extension Study of ABBV-8E12 in Patients With Progressive Supranuclear Palsy (PSP) Who Completed Study C2N-8E12-WW-104 Completed NCT03413319 Phase 1 ABBV-8E12
34 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
35 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
36 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
37 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 Completed NCT03545789 Phase 1 [18F]MNI-958
38 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)
39 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 Completed NCT02133846 Phase 1 TPI 287 2 mg/m2;TPI-287 20 mg/m2;Placebo;TPI-287 6.3 mg/m2
40 Pilot Study: Open Label Treatment With tDCS for Parkinson's and Related Disorders for Improvement of Speech, Gait and Mood Completed NCT02104401 Phase 1
41 Alzheimer's PET Imaging in Racially/Ethnically Diverse Adults Recruiting NCT03706261 Phase 1 18F-MK-6240;18F-Florbetaben
42 A Participant-Blind, Investigator-Blind, Placebo-Controlled, Phase 1b Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of UCB0107 in Study Participants With Progressive Supranuclear Palsy (PSP) Active, not recruiting NCT04185415 Phase 1 UCB0107;Placebo
43 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
44 A Multicenter, Open-Label, Long-Term Treatment Study of Intravenously Administered BIIB092 in Patients With Progressive Supranuclear Palsy Who Participated in Study CN002003 Terminated NCT02658916 Phase 1 BIIB092
45 Foot Mechanical Stimulation for Treatment of Gait and Gait Related Disorders in Parkinson's Disease Unknown status NCT01815281
46 Functional Assessment of the Melanopsin-Containing Retinal Ganglion Cells in Progressive Supranuclear Palsy Using Chromatic Pupillometry Unknown status NCT03330353
47 Blood Alpha-Synuclein, Gene Expression, and Smell Testing as Diagnostic and Prognostic Biomarkers in Parkinson's Disease Unknown status NCT00653783
48 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
49 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
50 The Purpose of This Study is to Determine if the 9zest App for Parkinson's Disease (PD) is Feasible, Safe, and Efficacious When Used Independently by Individuals With Parkinson's Disease Unknown status NCT03459586

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:

40
Brain, Eye, Testes, Cortex, Spinal Cord, Cerebellum, Thalamus

Publications for Supranuclear Palsy, Progressive, 1

Articles related to Supranuclear Palsy, Progressive, 1:

(show top 50) (show all 3899)
# Title Authors PMID Year
1
Familial aggregation of parkinsonism in progressive supranuclear palsy. 54 56 61 6
19458322 2009
2
A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. 54 56 6 61
16157753 2005
3
An English kindred with a novel recessive tauopathy and respiratory failure. 6 56
14595660 2003
4
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. 61 54 56
16195395 2005
5
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. 54 61 56
15792962 2005
6
An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. 56 61 54
12325083 2002
7
Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy. 56 61 54
11445645 2001
8
Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE. 54 61 56
11134398 2000
9
Untangling tau-related dementia. 61 6 54
10767321 2000
10
Mutational analysis of the tau gene in progressive supranuclear palsy. 54 56 61
10534245 1999
11
Association of an extended haplotype in the tau gene with progressive supranuclear palsy. 54 61 56
10072441 1999
12
A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration. 54 56 61
9932968 1999
13
Direct genetic evidence for involvement of tau in progressive supranuclear palsy. European Study Group on Atypical Parkinsonism Consortium. 61 54 56
9781517 1998
14
Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. 54 61 56
9708963 1998
15
Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene. 61 56 54
9443491 1998
16
Reelin expression and glycosylation patterns are altered in Alzheimer's disease. 61 56
16567613 2006
17
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies. 61 56
16432153 2006
18
Rates of cerebral atrophy in autopsy-confirmed progressive supranuclear palsy. 61 56
16278856 2006
19
Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. 61 56
16157754 2005
20
The structure of the tau haplotype in controls and in progressive supranuclear palsy. 56 61
15115761 2004
21
Pick Complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. 56 61
14629785 2003
22
Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy. 56 61
12913211 2003
23
Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study. 56 61
12654952 2003
24
Familial progressive supranuclear palsy: detection of subclinical cases using 18F-dopa and 18fluorodeoxyglucose positron emission tomography. 56 61
11708994 2001
25
An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy. 56 61
11087782 2000
26
MAPT-Related Disorders – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301678 2000
27
Clinical genetics of familial progressive supranuclear palsy. 56 61
10388790 1999
28
Genetic evidence for the involvement of tau in progressive supranuclear palsy. 56 61
9029080 1997
29
Follow-up study of risk factors in progressive supranuclear palsy. 56 61
8710069 1996
30
Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. 61 56
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. 61 56
14107684 1964
32
Contribution of the Mesencephalon Indices to Differential Diagnosis of Parkinsonian Disorders. 42 61
32062996 2020
33
Exercise and Progressive Supranuclear Palsy: the need for explicit exercise reporting. 42 61
31783740 2019
34
Progressive supranuclear palsy. 42 61
31779824 2019
35
Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. 6
11402146 2001
36
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. 6
11255441 2001
37
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. 6
9789048 1998
38
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 56
9641683 1998
39
Tau is a candidate gene for chromosome 17 frontotemporal dementia. 6
9629852 1998
40
Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse. 54 61
20498436 2010
41
Curcumin labeling of neuronal fibrillar tau inclusions in human brain samples. 54 61
20448485 2010
42
Protein targets of oxidative damage in human neurodegenerative diseases with abnormal protein aggregates. 61 54
19725834 2010
43
Consecutive analyses of cerebrospinal fluid axonal and glial markers in Parkinson's disease and atypical Parkinsonian disorders. 61 54
19647470 2010
44
Screening for LRRK2 R1441 mutations in a cohort of PSP patients from Germany. 61 54
19538213 2009
45
Biological fluid biomarkers in neurodegenerative parkinsonism. 54 61
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. 54 61
19330339 2009
47
Transmission and spreading of tauopathy in transgenic mouse brain. 61 54
19503072 2009
48
H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers. 54 61
18854867 2009
49
5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. 54 61
19022385 2009
50
Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus. 61 54
17602795 2008

Variations for Supranuclear Palsy, Progressive, 1

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPT NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu)SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
2 MAPT NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp)SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061
3 MAPT NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys)SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324
4 MAPT NM_016835.4(MAPT):c.14G>T (p.Arg5Leu)SNV Pathogenic 14263 rs63750959 17:44039717-44039717 17:45962351-45962351
5 MAPT NM_016835.4(MAPT):c.2006C>T (p.Ser669Leu)SNV Pathogenic 14267 rs63750425 17:44096041-44096041 17:46018675-46018675
6 MAPT NM_016835.4(MAPT):c.1859G>T (p.Gly620Val)SNV Pathogenic 14269 rs63751391 17:44087761-44087761 17:46010395-46010395
7 MAPT NM_016835.4(MAPT):c.623del (p.Gly208fs)deletion Uncertain significance 225409 rs773149360 17:44060789-44060789 17:45983423-45983423
8 MAPT NM_016835.4(MAPT):c.890C>T (p.Ala297Val)SNV Uncertain significance 429936 rs377402921 17:44061060-44061060 17:45983694-45983694
9 MAPT NM_016835.4(MAPT):c.47G>T (p.Gly16Val)SNV Uncertain significance 548576 rs755131800 17:44039750-44039750 17:45962384-45962384
10 MAPT NM_016835.4(MAPT):c.664C>A (p.Arg222Ser)SNV Uncertain significance 638372 17:44060834-44060834 17:45983468-45983468

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

73
# 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 TH SNCA SLC6A3 RPS27A PRKN PARK7
2
Show member pathways
12.62 TH SLC6A3 DRD2 CHAT ACHE
3 11.97 SNCA MIR132 MAPT CDK5 APP APOE
4 11.94 TH SNCA RPS27A PRNP PRKN PARK7
5
Show member pathways
11.85 TH SLC6A3 DRD2 CDK5
6 11.8 MAPT CDK5 APP APOE
7
Show member pathways
11.76 TH DRD2 CDK5
8 11.63 TH NEFL CHAT
9 11.43 PRNP MAPT APP
10 11.42 TH SNCA SLC6A3 PRKN PARK7 MIR132
11
Show member pathways
11.32 TH SLC6A3 ACHE
12 11.32 MAPT CDK5 APP APOE
13 11.16 TH SNCA SLC6A3 PRKN PARK7
14
Show member pathways
10.99 TH SLC6A3 DRD2
15
Show member pathways
10.95 TH CHAT ACHE
16 10.66 TH CHAT ACHE
17 10.65 RPS27A PRKN
18 10.38 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 21)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 TH SNCA SLC6A3 RPS27A PRNP PRKN
2 plasma membrane GO:0005886 10.38 SNCA SLC6A3 RPS27A PRNP PARK7 MAPT
3 Golgi apparatus GO:0005794 10.13 SNCA PRNP PRKN LRRK2 APP APOE
4 perinuclear region of cytoplasm GO:0048471 10.02 TH SNCA PRKN PARK7 APP ACHE
5 dendrite GO:0030425 9.98 TH PRNP MAPT LRRK2 DRD2 CDK5
6 synapse GO:0045202 9.97 SNCA PRKN PARK7 LRRK2 DRD2 CHAT
7 neuronal cell body GO:0043025 9.91 TH SNCA SLC6A3 MAPT LRRK2 CDK5
8 cell GO:0005623 9.9 TH SNCA PRNP PRKN PARK7 MAPT
9 presynapse GO:0098793 9.89 SNCA PRKN PARK7 CHAT CDK5
10 perikaryon GO:0043204 9.88 TH LRRK2 DRD2 CDK5 APP
11 membrane raft GO:0045121 9.88 SLC6A3 PRNP PARK7 MAPT LRRK2 APP
12 synaptic vesicle GO:0008021 9.84 TH SNCA LRRK2 APP
13 neuromuscular junction GO:0031594 9.81 NEFL CDK5 APP ACHE
14 terminal bouton GO:0043195 9.76 TH SNCA PRNP LRRK2
15 synaptic vesicle membrane GO:0030672 9.75 SNCA LRRK2 DRD2
16 growth cone GO:0030426 9.73 SNCA NEFL MAPT LRRK2 CDK5 APP
17 inclusion body GO:0016234 9.7 SNCA PRNP LRRK2
18 axon GO:0030424 9.65 TH SNCA SLC6A3 PARK7 NEFL MAPT
19 dopaminergic synapse GO:0098691 9.59 SLC6A3 DRD2
20 main axon GO:0044304 9.56 MAPT APP
21 neuron projection GO:0043005 9.36 TH SLC6A3 PRKN PARK7 NEFL MAPT

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

(show top 50) (show all 77)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 10.01 SNCA RPS27A PRKN APP APOE
2 negative regulation of gene expression GO:0010629 10.01 PRKN PARK7 MIR132 MAPT APP APOE
3 autophagy GO:0006914 9.98 PRKN PARK7 LRRK2 DRD2
4 neuron projection development GO:0031175 9.95 MAPT CDK5 APP APOE
5 negative regulation of neuron apoptotic process GO:0043524 9.95 SNCA PRKN PARK7 NEFL APOE
6 cellular response to oxidative stress GO:0034599 9.92 SNCA PARK7 LRRK2
7 axonogenesis GO:0007409 9.92 DRD2 CDK5 APP
8 mitochondrion organization GO:0007005 9.92 PRKN PARK7 LRRK2 CDK5
9 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.91 SNCA PARK7 APP
10 cerebral cortex development GO:0021987 9.9 TH NEFL CDK5
11 regulation of autophagy GO:0010506 9.9 PRKN MAPT LRRK2
12 negative regulation of cell death GO:0060548 9.89 PRKN PARK7 DRD2
13 neuron projection morphogenesis GO:0048812 9.89 NEFL LRRK2 CDK5
14 forebrain development GO:0030900 9.89 DRD2 CDK5 APP
15 response to oxidative stress GO:0006979 9.89 PRNP PRKN LRRK2 APP APOE
16 learning GO:0007612 9.88 TH PRKN APP
17 positive regulation of protein binding GO:0032092 9.88 PRKN LRRK2 CDK5 APP
18 synapse assembly GO:0007416 9.87 DRD2 CDK5 ACHE
19 excitatory postsynaptic potential GO:0060079 9.87 SNCA LRRK2 DRD2 CDK5
20 synapse organization GO:0050808 9.86 SNCA MAPT APP
21 protein destabilization GO:0031648 9.85 SNCA PRNP PRKN
22 visual learning GO:0008542 9.85 DRD2 CDK5 APP
23 cellular response to amyloid-beta GO:1904646 9.84 PRNP CDK5 APP
24 response to nicotine GO:0035094 9.84 TH SLC6A3 DRD2
25 adult locomotory behavior GO:0008344 9.83 SNCA PRKN PARK7 APP
26 long-term memory GO:0007616 9.82 PRNP DRD2 APOE
27 regulation of dopamine secretion GO:0014059 9.81 SNCA PRKN DRD2
28 microglial cell activation GO:0001774 9.8 SNCA MAPT APP
29 cellular response to copper ion GO:0071280 9.8 SNCA PRNP APP
30 locomotory behavior GO:0007626 9.8 TH SLC6A3 PRKN DRD2 APP
31 regulation of long-term neuronal synaptic plasticity GO:0048169 9.78 SNCA DRD2 APP
32 response to cocaine GO:0042220 9.78 SNCA SLC6A3 DRD2 CDK5
33 behavioral response to cocaine GO:0048148 9.77 SNCA DRD2 CDK5
34 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.77 PRKN PARK7 LRRK2
35 negative regulation of neuron death GO:1901215 9.77 SNCA PRKN PARK7 LRRK2 CDK5
36 axon development GO:0061564 9.75 NEFL MAPT
37 cellular response to dopamine GO:1903351 9.75 PRKN LRRK2
38 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.75 PARK7 LRRK2
39 negative regulation of voltage-gated calcium channel activity GO:1901386 9.75 DRD2 CRHR1
40 prepulse inhibition GO:0060134 9.75 SLC6A3 DRD2
41 protein polymerization GO:0051258 9.75 NEFL MAPT
42 dopamine metabolic process GO:0042417 9.75 SNCA PRKN DRD2
43 negative regulation of protein processing GO:0010955 9.74 PRNP LRRK2
44 negative regulation of amyloid-beta formation GO:1902430 9.74 PRNP APOE
45 cellular copper ion homeostasis GO:0006878 9.74 PRNP APP
46 supramolecular fiber organization GO:0097435 9.74 SNCA MAPT
47 locomotory exploration behavior GO:0035641 9.74 LRRK2 APOE
48 striatum development GO:0021756 9.73 LRRK2 DRD2
49 amyloid fibril formation GO:1990000 9.73 MAPT APP
50 virion assembly GO:0019068 9.73 RPS27A APOE

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.89 SLC6A3 PARK7 DRD2 APP APOE
2 enzyme binding GO:0019899 9.88 TH SNCA PRKN PARK7 MAPT APP
3 microtubule binding GO:0008017 9.83 SNCA PRNP MAPT LRRK2 CDK5
4 chaperone binding GO:0051087 9.72 PRNP PRKN MAPT
5 amyloid-beta binding GO:0001540 9.71 PRNP APOE ACHE
6 copper ion binding GO:0005507 9.69 SNCA PRNP PARK7
7 tau protein binding GO:0048156 9.65 SNCA CDK5 APOE
8 tubulin binding GO:0015631 9.62 PRNP PRKN MAPT LRRK2
9 phospholipase binding GO:0043274 9.54 SNCA PRKN NEFL
10 lipoprotein particle binding GO:0071813 9.52 MAPT APOE
11 protein-containing complex binding GO:0044877 9.5 SLC6A3 PRNP PRKN PARK7 NEFL DRD2
12 cupric ion binding GO:1903135 9.46 PRNP PARK7
13 dopamine binding GO:0035240 9.43 TH SLC6A3 DRD2
14 identical protein binding GO:0042802 9.36 SNCA PRNP PRKN PARK7 NEFL MAPT
15 cuprous ion binding GO:1903136 9.33 SNCA PRNP PARK7

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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