PSNP1
MCID: SPR120
MIFTS: 69

Supranuclear Palsy, Progressive, 1 (PSNP1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Supranuclear Palsy, Progressive, 1

MalaCards integrated aliases for Supranuclear Palsy, Progressive, 1:

Name: Supranuclear Palsy, Progressive, 1 57 28
Progressive Supranuclear Palsy 11 19 42 52 58 75 41 14 71 33
Steele-Richardson-Olszewski Syndrome 57 11 19 42 73
Supranuclear Palsy, Progressive 57 19 42 12 43
Progressive Supranuclear Ophthalmoplegia 11 42 28 5
Psp 57 19 42 73
Familial Progressive Supranuclear Palsy 19 71
Psnp1 57 73
Ophthalmoplegia, Supranuclear, Progressive 38
Steele-Richardson-Olszewksi Syndrome 33
Progressive Supranuclear Palsy 1 73
Supranuclear Palsy Progressive 53
Richardson's Syndrome 42
Psp Syndrome 58

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Progressive Supranuclear Palsy: 1-9/100000 (Worldwide, Worldwide, United States, Italy, United Kingdom) 1-5/10000 (Europe, Guadeloupe) 1-9/1000000 (Libyan Arab Jamahiriya, United States, Australia) 58

Age Of Onset:

Progressive Supranuclear Palsy: Adult,Elderly 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
phenotypic overlap with frontotemporal dementia
autosomal dominant with incomplete penetrance
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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Supranuclear Palsy, Progressive, 1

MedlinePlus: 41 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 parkinsonism and mutism, and has symptoms including tremor, photophobia and back pain. An important gene associated with Supranuclear Palsy, Progressive, 1 is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Neuroscience. The drugs Zolpidem and Diphenhydramine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and bone marrow, and related phenotypes are dysphagia and unsteady gait

MedlinePlus Genetics: 42 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.

NINDS: 52 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. 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). 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.  Other eye problems iclude: Slow eye movements. Trouble voluntarily shifting gaze vertically (i.e., downward and/or upward). Trouble controlling eyelids. Tendency to move the head to look in different directions. Involuntary closing of the eyes. Prolonged or infrequent blinking. Difficulty in opening the eyes. Inability to maintain eye contact during a conversation. Affected individuals often show alterations of thinking, memory, mood, and behavior, including: depression and apathy. changes in judgment, insight, and problem solving increased irritability and forgetfulness sudden laughing or crying or having angry outburst with no apparent reason. slowness of thought.  Although PSP gets progressively worse, no one dies from PSP itself. PSP is often misdiagnosed as Parkinson’s disease, especially early in the disorder, as they share many symptoms, including stiffness, movement difficulties, clumsiness, bradykinesia (slow movement), and rigidity of muscles. The onset of both diseases is in late middle age. However, PSP progresses more rapidly than Parkinson’s disease.

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) (Updated 08-Dec-2022)

GARD: 19 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. Most cases of PSP appear to be sporadic, but familial cases have been reported. Some cases have been found to be caused by a genetic change in the MAPT gene, and other genetic factors are being studied.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 A rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction.

Wikipedia: 75 Progressive supranuclear palsy (PSP) is a late-onset degenerative disease involving the gradual... 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 484)
# Related Disease Score Top Affiliating Genes
1 parkinsonism 31.4 TH SNCA SLC6A3 PRKN PARK7 MAPT
2 mutism 31.3 SLC6A3 PRNP MAPT
3 amyloidosis 31.3 SNCA PRNP MAPT APP APOE
4 huntington disease 31.2 TH SNCA SLC6A3 PRNP MIR132 MAPT
5 rem sleep behavior disorder 31.2 SNCA SLC6A3 PRKN PARK7 MAPT LRRK2
6 essential tremor 31.2 SNCA SLC6A3 PRKN MAPT LRRK2
7 parkinson disease 2, autosomal recessive juvenile 31.2 SNCA PRKN PARK7 LRRK2
8 focal dystonia 31.2 SLC6A3 PRKN DRD2
9 cerebellar disease 31.2 SNCA PRNP PRKN MIR132 MAPT LRRK2
10 choreatic disease 31.1 TH SNCA SLC6A3 PRNP PRKN PARK7
11 cerebral amyloid angiopathy, cst3-related 31.1 SNCA PRNP MAPT APP APOE
12 postencephalitic parkinson disease 31.1 TH SNCA SLC6A3 PRKN PARK7 MAPT
13 akinetic mutism 31.1 SNCA SLC6A3 PRNP NEFL MAPT
14 sleep disorder 31.0 TH SNCA SLC6A3 LRRK2 APOE
15 restless legs syndrome 31.0 SNCA SLC6A3 PRKN MAPT DRD2
16 amnestic disorder 31.0 MAPT CHAT APP APOE ACHE
17 stroke, ischemic 31.0 TH MAPT CHAT CDK5 CBS APOE
18 hereditary late-onset parkinson disease 31.0 SNCA MAPT LRRK2
19 alzheimer disease 10 31.0 MAPT APOE
20 major depressive disorder 30.9 TH SLC6A3 DRD2 CRHR1 APP APOE
21 parkinson disease 15, autosomal recessive early-onset 30.9 SNCA PRKN PARK7 LRRK2
22 multiple system atrophy 1 30.9 TH SNCA SLC6A3 PRNP PRKN PARK7
23 tremor 30.9 SNCA PRKN MAPT LRRK2
24 agraphia 30.9 SLC6A3 PRNP MAPT CBS APOE
25 niemann-pick disease, type c1 30.9 SNCA MAPT APP
26 attention deficit-hyperactivity disorder 30.9 TH SNCA SLC6A3 MAPT DRD2 CRHR1
27 frontotemporal dementia 30.8 SNCA PRNP PRKN PARK7 NEFL MIR132
28 parkinson disease 4, autosomal dominant 30.7 TH SNCA SLC6A3
29 binswanger's disease 30.7 MAPT APP APOE ACHE
30 alzheimer disease 2 30.7 SNCA PARK7 APP APOE
31 alzheimer disease 3 30.7 PRKN APP APOE
32 finger agnosia 30.7 SLC6A3 MAPT CBS ACHE
33 alexia 30.7 PRNP MAPT CBS APOE
34 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 30.7 TH SNCA PARK7 MAPT LRRK2
35 nominal aphasia 30.7 SNCA MAPT CBS APOE ACHE
36 parkinson disease, late-onset 30.7 TH SNCA SLC6A3 PRNP PRKN PARK7
37 machado-joseph disease 30.7 SNCA SLC6A3 PRKN LRRK2 APOE
38 niemann-pick disease 30.7 SNCA APP APOE
39 mood disorder 30.6 TH SLC6A3 MIR132 DRD2 CRHR1
40 wilson disease 30.6 SLC6A3 PRNP DRD2
41 ideomotor apraxia 30.6 SNCA SLC6A3 PRNP MAPT CBS APOE
42 movement disease 30.6 TH SNCA SLC6A3 PRNP PRKN PARK7
43 mild cognitive impairment 30.6 SNCA SLC6A3 NEFL MIR132 MAPT CHAT
44 hydrocephalus 30.6 SNCA SLC6A3 MAPT APP APOE
45 dysgraphia 30.6 MAPT CBS
46 anxiety 30.5 TH SNCA SLC6A3 DRD2 CRHR1 APP
47 dystonia 30.5 TH SNCA SLC6A3 PRKN PARK7 LRRK2
48 aphasia 30.5 SNCA PRNP NEFL MAPT LRRK2 CBS
49 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.5 PRNP MAPT
50 dementia 30.5 TH SNCA SLC6A3 PRNP PRKN PARK7

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 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002015
2 unsteady gait 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002317
3 impulsivity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100710
4 postural instability 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002172
5 neuronal loss in central nervous system 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002529
6 falls 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002527
7 supranuclear ophthalmoplegia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000623
8 abnormal synaptic transmission 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012535
9 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
10 delayed speech and language development 58 30 Frequent (33%) Frequent (79-30%)
HP:0000750
11 cerebral cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002120
12 memory impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002354
13 blepharospasm 58 30 Frequent (33%) Frequent (79-30%)
HP:0000643
14 aphasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002381
15 vertical supranuclear gaze palsy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000511
16 bradykinesia 58 30 Very rare (1%) Frequent (79-30%)
HP:0002067
17 slow saccadic eye movements 58 30 Frequent (33%) Frequent (79-30%)
HP:0000514
18 gliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002171
19 pseudobulbar signs 58 30 Frequent (33%) Frequent (79-30%)
HP:0002200
20 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
21 rigidity 58 30 Very rare (1%) Occasional (29-5%)
HP:0002063
22 dementia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000726
23 dysarthria 30 Very rare (1%) HP:0001260
24 gait imbalance 30 Very rare (1%) HP:0002141
25 cerebral atrophy 30 Very rare (1%) HP:0002059
26 astrocytosis 30 Very rare (1%) HP:0002446
27 neurofibrillary tangles 30 Very rare (1%) HP:0002185
28 senile plaques 30 Very rare (1%) HP:0100256
29 micrographia 30 Very rare (1%) HP:0031908
30 supranuclear gaze palsy 58 30 Very frequent (99-80%)
HP:0000605
31 abnormality of eye movement 58 Occasional (29-5%)
32 diplopia 30 HP:0000651
33 cognitive impairment 58 Frequent (79-30%)
34 photophobia 30 HP:0000613
35 irritability 30 HP:0000737
36 dystonia 58 Frequent (79-30%)
37 apathy 30 HP:0000741
38 axial dystonia 30 HP:0002530
39 limb dystonia 30 HP:0002451
40 akinesia 30 HP:0002304
41 mutism 30 HP:0002300
42 parkinsonism 30 HP:0001300
43 blurred vision 30 HP:0000622
44 frontal release signs 30 HP:0000743
45 eyelid apraxia 30 HP:0000658
46 neuronal loss in basal ganglia 30 HP:0200147
47 retrocollis 30 HP:0002544
48 frontolimbic dementia 30 HP:0002439
49 granulovacuolar degeneration 30 HP:0002528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
diplopia
photophobia
blurred vision
supranuclear gaze palsy
eyelid apraxia

Abdomen Gastrointestinal:
dysphagia

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

Clinical features from OMIM®:

601104 (Updated 08-Dec-2022)

UMLS symptoms related to Supranuclear Palsy, Progressive, 1:


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

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

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.45 ACHE APOE APP CBS CDK5 CHAT
2 homeostasis/metabolism MP:0005376 10.4 ACHE APOE APP CBS CDK5 CHAT
3 normal MP:0002873 10.36 APP CDK5 CHAT CRHR1 DRD2 LRRK2
4 behavior/neurological MP:0005386 10.33 ACHE APOE APP CBS CDK5 CHAT
5 no phenotypic analysis MP:0003012 10.31 ACHE APOE APP CDK5 CRHR1 DRD2
6 growth/size/body region MP:0005378 10.29 ACHE APOE APP CBS CHAT DRD2
7 cardiovascular system MP:0005385 10.25 ACHE APOE APP CBS CHAT CRHR1
8 cellular MP:0005384 10.23 APOE APP CBS DRD2 LRRK2 MAPT
9 muscle MP:0005369 10.21 ACHE APOE APP CBS CHAT DRD2
10 respiratory system MP:0005388 10.07 ACHE APOE CBS CDK5 CHAT CRHR1
11 skeleton MP:0005390 10.06 APOE APP CBS CHAT DRD2 LRRK2
12 vision/eye MP:0005391 9.91 ACHE APOE APP CBS CHAT CRHR1
13 mortality/aging MP:0010768 9.83 ACHE APOE APP CBS CDK5 CHAT
14 taste/olfaction MP:0005394 9.55 APOE DRD2 MAPT SLC6A3 SNCA
15 integument MP:0010771 9.4 APOE APP CBS CDK5 DRD2 LRRK2

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 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zolpidem Approved Phase 4 82626-48-0 5732
2
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
3
Suvorexant Approved, Investigational Phase 4 1030377-33-3 57505028 24965990
4
Promethazine Approved, Investigational Phase 4 60-87-7 4927
5
Zoledronic acid Approved Phase 4 118072-93-8 68740
6 Hypnotics and Sedatives Phase 4
7 GABA Agonists Phase 4
8 Orexin Receptor Antagonists Phase 4
9
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
10
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
11
Rasagiline Approved Phase 3 136236-51-6 3052776
12
Ubidecarenone Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
13 Vitamins Phase 2, Phase 3
14 Trace Elements Phase 2, Phase 3
15 Ubiquinone Phase 2, Phase 3
16 Micronutrients Phase 2, Phase 3
17 Cholinesterase Inhibitors Phase 3
18 Cholinergic Agents Phase 3
19 Neurotransmitter Agents Phase 3
20 Anticonvulsants Phase 3
21 Neuroprotective Agents Phase 3
22 Excitatory Amino Acid Antagonists Phase 3
23 Protective Agents Phase 3
24 Monoamine Oxidase Inhibitors Phase 3
25
Donepezil Approved Phase 2 120014-06-4 3152
26
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
27
Lithium carbonate Approved Phase 1, Phase 2 554-13-2
28
Acetylcarnitine Approved, Investigational Phase 1, Phase 2 3040-38-8
29
Tolfenamic acid Approved, Investigational Phase 1, Phase 2 13710-19-5 610479
30
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
31
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
32
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
33
Lipoic acid Approved, Investigational, Nutraceutical Phase 1, Phase 2 1200-22-2 864 6112
34
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 1, Phase 2 461-06-3
35
Fasudil Investigational Phase 2 103745-39-7 3547
36
Tilavonemab Investigational Phase 2 2096513-89-0
37 Psychotropic Drugs Phase 2
38 Antidepressive Agents Phase 1, Phase 2
39 Folate Phase 1, Phase 2
40 Vitamin B9 Phase 1, Phase 2
41 Vitamin B Complex Phase 1, Phase 2
42 Alpha-lipoic Acid Phase 1, Phase 2
43 Linoleate Phase 2
44 Vasodilator Agents Phase 2
45 Protein Kinase Inhibitors Phase 2
46 Analgesics Phase 1, Phase 2
47 Antirheumatic Agents Phase 1, Phase 2
48 Hormones Phase 1, Phase 2
49 Hormone Antagonists Phase 1, Phase 2
50 Calcium, Dietary Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 120)
# 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 TOPAZ: Trial of Parkinson's And Zoledronic Acid A Randomized Placebo-controlled Trial of Zoledronic Acid for the Prevention of Fractures in Patients With Parkinson's Disease Recruiting NCT03924414 Phase 4 Zoledronic Acid 5Mg/Bag 100Ml Inj
3 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 Completed NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
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 RIVA-PSP: Efficacy of Rivastigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy: A Randomised Double Blind Placebo-controlled Clinical Trial Active, not recruiting NCT02839642 Phase 3 Rivastigmine;Placebo
7 Phase 3 Study of Riluzole in Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) (Parkinson's Plus Syndromes) Terminated NCT00211224 Phase 3 Riluzole
8 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
9 Study of the Distractibility Syndrome in Patients With Progressive Supranuclear Palsy Unknown status NCT00139373 Phase 2 donepezil
10 Autologous Mesenchymal Stem Cell Therapy in Progressive Supranuclear Palsy: a Randomized, Double-blind, Controlled Clinical Trial Unknown status NCT01824121 Phase 1, Phase 2
11 Rivastigmine (Exelon®) for Treatment of Dementia in Patient With Progressive Supranuclear Paresis Open Label Phase 2 Study Unknown status NCT00522015 Phase 2 rivastigmine
12 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) Completed NCT04184063 Phase 2 NBMI
13 Randomized Placebo-controlled Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy Completed NCT00385710 Phase 2 valproic acid;Placebo
14 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2 Lithium
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 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
17 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
18 A Randomized, Double-blind, Controlled, Phase 2 Study to Assess Efficacy, Long Term Safety and Tolerability of RT001 in Subjects With Progressive Supranuclear Palsy Recruiting NCT04937530 Phase 2 RT001;Placebo
19 A Phase 2a Open-Label Preliminary Safety, Tolerability, and Biomarker Study of Oral Fasudil in Patients With the 4-Repeat Tauopathies of Progressive Supranuclear Palsy-Richardson Syndrome or Corticobasal Syndrome. Active, not recruiting NCT04734379 Phase 2 Fasudil
20 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 Active, not recruiting NCT04008355 Phase 2 AZP2006 oral solution;Placebo oral solution
21 A Phase 2a Study of TPN-101 in Patients With Progressive Supranuclear Palsy (PSP) Active, not recruiting NCT04993768 Phase 2 TPN-101, 100 mg/day;TPN-101, 200 mg/day;TPN-101, 400 mg/day;Placebo
22 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
23 A Randomized, Double-Blind, Placebo-Controlled Multiple Dose Study to Assess Efficacy, Safety, Tolerability, and Pharmacokinetics of ABBV-8E12 in Progressive Supranuclear Palsy Terminated NCT02985879 Phase 2 Placebo;ABBV-8E12
24 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
25 An Extension Study of ABBV-8E12 in Progressive Supranuclear Palsy (PSP) Terminated NCT03391765 Phase 2 ABBV-8E12;Placebo solution for IV infusion on Day 15
26 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Withdrawn NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
27 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) Completed NCT04185415 Phase 1 bepranemab;Placebo
28 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
29 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
30 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear Palsy Completed NCT02422485 Phase 1 Salsalate
31 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
32 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Monthly Young Healthy Male Donor Plasma Transfusions for Progressive Supranuclear Palsy Completed NCT02460731 Phase 1
33 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
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 Flortaucipir F18
35 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)
36 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
37 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
38 An Open Label, Single Center Study to Evaluate the Safety and Imaging Characteristics of [18F]PI-2620 as PET Radioligand for Imaging Tau Deposition in the Brains of Patients With Mild to Moderate Alzheimer's Disease (AD) and Patients With Progressive Supranuclear Palsy (PSP) After i.v. Application of [18F]PI-2620 With High and Low Specific Activity Recruiting NCT04715750 Phase 1 [18F]-PI2620
39 An Open Label, Single Center Study to Evaluate the Safety and Test-retest Characteristics of [18F]PI-2620 as PET Radioligand for Imaging Tau Deposition in the Brains of Patients With Progressive Supranuclear Palsy Richardson Syndrome (PSP-RS) Compared to Non-demented Controls (NDC) Recruiting NCT05187546 Phase 1 [18F]-PI2620
40 Evaluation of [18F]APN-1607 as a PET Biomarker for Longitudinal Change in Tau Pathology in Participants With Progressive Supranuclear Palsy Recruiting NCT05005819 Phase 1 [18F] APN-1607
41 A Randomized, Participant, Investigator and Sponsor Blinded, Placebo-Controlled Study to Evaluate the Safety, Tolerability and Pharmacokinetics of Multiple Ascending Doses of Intrathecally Administered NIO752 in Participants With Progressive Supranuclear Palsy Recruiting NCT04539041 Phase 1 antisense oligonucleotide;placebo
42 An Open-Label Extension Study to Evaluate the Safety and Tolerability of Long-Term UCB0107 Administration in Study Participants With Progressive Supranuclear Palsy Active, not recruiting NCT04658199 Phase 1 UCB0107 (bepranemab)
43 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
44 Functional Assessment of the Melanopsin-Containing Retinal Ganglion Cells in Progressive Supranuclear Palsy Using Chromatic Pupillometry Unknown status NCT03330353
45 Cross-sectional Study of the Factors Determining the Quality of Life of the Patient and the Burden of the Caregiver in Progressive Supranuclear Palsy Unknown status NCT03638505
46 Observational Longitudinal Study of Magnetic Resonance Imaging, Specimen Biomarkers, and Clinical Progression in Progressive Supranuclear Palsy and Corticobasal Degeneration Unknown status NCT01804452
47 Multimodal Assessment For Predicting Specific Pathological Substrate in Frontotemporal Lobar Degeneration Unknown status NCT02964637
48 Blood Alpha-Synuclein, Gene Expression, and Smell Testing as Diagnostic and Prognostic Biomarkers in Parkinson's Disease Unknown status NCT00653783
49 A Multi-centre Proof-of-performance Clinical Study to Validate Blood-based Biomarker Candidates for the Diagnosis of Alzheimer's Disease Unknown status NCT03030586
50 Cerebellar rTMS Theta Burst for Postural Instability in Progressive Supranuclear Palsy: a Double Blind Cross-over Sham-controlled Study Using Wearing Sensors Technology Completed NCT04222218

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 28
2 Supranuclear Palsy, Progressive, 1 28 MAPT

Anatomical Context for Supranuclear Palsy, Progressive, 1

Organs/tissues related to Supranuclear Palsy, Progressive, 1:

MalaCards : Eye, Brain, Bone Marrow, Spinal Cord, Cortex, Cerebellum, Globus Pallidus

Publications for Supranuclear Palsy, Progressive, 1

Articles related to Supranuclear Palsy, Progressive, 1:

(show top 50) (show all 4647)
# Title Authors PMID Year
1
Familial aggregation of parkinsonism in progressive supranuclear palsy. 53 62 57 5
19458322 2009
2
A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy. 53 62 57 5
16157753 2005
3
An English kindred with a novel recessive tauopathy and respiratory failure. 57 5
14595660 2003
4
High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. 53 62 57
16195395 2005
5
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. 53 62 57
15792962 2005
6
An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype. 53 62 57
12325083 2002
7
Tau genotype: no effect on onset, symptom severity, or survival in progressive supranuclear palsy. 53 62 57
11445645 2001
8
Multiple system atrophy/progressive supranuclear palsy: alpha-Synuclein, synphilin, tau, and APOE. 53 62 57
11134398 2000
9
Untangling tau-related dementia. 53 62 5
10767321 2000
10
Mutational analysis of the tau gene in progressive supranuclear palsy. 53 62 57
10534245 1999
11
Association of an extended haplotype in the tau gene with progressive supranuclear palsy. 53 62 57
10072441 1999
12
A lack of the R406W tau mutation in progressive supranuclear palsy and corticobasal degeneration. 53 62 57
9932968 1999
13
Direct genetic evidence for involvement of tau in progressive supranuclear palsy. European Study Group on Atypical Parkinsonism Consortium. 53 62 57
9781517 1998
14
Significant changes in the tau A0 and A3 alleles in progressive supranuclear palsy and improved genotyping by silver detection. 53 62 57
9708963 1998
15
Progressive supranuclear gaze palsy is in linkage disequilibrium with the tau and not the alpha-synuclein gene. 53 62 57
9443491 1998
16
Reelin expression and glycosylation patterns are altered in Alzheimer's disease. 62 57
16567613 2006
17
Frameshift proteins in autosomal dominant forms of Alzheimer disease and other tauopathies. 62 57
16432153 2006
18
Rates of cerebral atrophy in autopsy-confirmed progressive supranuclear palsy. 62 57
16278856 2006
19
Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy. 62 57
16157754 2005
20
The structure of the tau haplotype in controls and in progressive supranuclear palsy. 62 57
15115761 2004
21
Pick Complex: an integrative approach to frontotemporal dementia: primary progressive aphasia, corticobasal degeneration, and progressive supranuclear palsy. 62 57
14629785 2003
22
Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy. 62 57
12913211 2003
23
Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study. 62 57
12654952 2003
24
Familial progressive supranuclear palsy: detection of subclinical cases using 18F-dopa and 18fluorodeoxyglucose positron emission tomography. 62 57
11708994 2001
25
An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy. 62 57
11087782 2000
26
Clinical genetics of familial progressive supranuclear palsy. 62 57
10388790 1999
27
Genetic evidence for the involvement of tau in progressive supranuclear palsy. 62 57
9029080 1997
28
Follow-up study of risk factors in progressive supranuclear palsy. 62 57
8710069 1996
29
Familial progressive supranuclear palsy. Description of a pedigree and review of the literature. 62 57
7496773 1995
30
PROGRESSIVE SUPRANUCLEAR PALSY. A HETEROGENEOUS DEGENERATION INVOLVING THE BRAIN STEM, BASAL GANGLIA AND CEREBELLUM WITH VERTICAL GAZE AND PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA. 62 57
14107684 1964
31
Neuroimmune proteins can differentiate between tauopathies. 62 41
36403052 2022
32
Mass spectrometry-based proteomics analysis of human globus pallidus from progressive supranuclear palsy patients discovers multiple disease pathways. 62 41
36354133 2022
33
Incidence and morphology of secondary TDP-43 proteinopathies: Part 1. 62 41
36382478 2022
34
Fibrillogenic nuclei composed of P301L mutant tau induce elongation of P301L tau but not wild-type tau. 5
17526496 2007
35
Proteomic and functional analyses reveal a mitochondrial dysfunction in P301L tau transgenic mice. 5
15831501 2005
36
Missense and splice site mutations in tau associated with FTDP-17: multiple pathogenic mechanisms. 5
11402146 2001
37
Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. 5
11255441 2001
38
Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. 5
9789048 1998
39
Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 57
9641683 1998
40
Tau is a candidate gene for chromosome 17 frontotemporal dementia. 5
9629852 1998
41
Alzheimer's disease hyperphosphorylated tau sequesters normal tau into tangles of filaments and disassembles microtubules. 5
8673924 1996
42
Tau levels do not influence human ALS or motor neuron degeneration in the SOD1G93A mouse. 53 62
20498436 2010
43
Curcumin labeling of neuronal fibrillar tau inclusions in human brain samples. 53 62
20448485 2010
44
Protein targets of oxidative damage in human neurodegenerative diseases with abnormal protein aggregates. 53 62
19725834 2010
45
Consecutive analyses of cerebrospinal fluid axonal and glial markers in Parkinson's disease and atypical Parkinsonian disorders. 53 62
19647470 2010
46
Screening for LRRK2 R1441 mutations in a cohort of PSP patients from Germany. 53 62
19538213 2009
47
Biological fluid biomarkers in neurodegenerative parkinsonism. 53 62
19724250 2009
48
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. 53 62
19330339 2009
49
Transmission and spreading of tauopathy in transgenic mouse brain. 53 62
19503072 2009
50
H1 haplotype of the MAPT gene is associated with lower regional gray matter volume in healthy carriers. 53 62
18854867 2009

Variations for Supranuclear Palsy, Progressive, 1

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAPT NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu) SNV Pathogenic
14263 rs63750959 GRCh37: 17:44039717-44039717
GRCh38: 17:45962351-45962351
2 MAPT NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu) SNV Pathogenic
14267 rs63750425 GRCh37: 17:44096041-44096041
GRCh38: 17:46018675-46018675
3 MAPT NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val) SNV Pathogenic
14269 rs63751391 GRCh37: 17:44087761-44087761
GRCh38: 17:46010395-46010395
4 MAPT NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys) SNV Pathogenic
14253 rs63750756 GRCh37: 17:44087690-44087690
GRCh38: 17:46010324-46010324
5 MAPT NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) SNV Pathogenic
Pathogenic
14245 rs63751273 GRCh37: 17:44087755-44087755
GRCh38: 17:46010389-46010389
6 MAPT NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp) SNV Pathogenic
14247 rs63750424 GRCh37: 17:44101427-44101427
GRCh38: 17:46024061-46024061
7 MAPT NM_001377265.1(MAPT):c.848del (p.Gly283fs) DEL Uncertain Significance
225409 rs773149360 GRCh37: 17:44060789-44060789
GRCh38: 17:45983423-45983423
8 MAPT NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) SNV Uncertain Significance
638372 rs150983093 GRCh37: 17:44060834-44060834
GRCh38: 17:45983468-45983468
9 MAPT NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val) SNV Uncertain Significance
429936 rs377402921 GRCh37: 17:44061060-44061060
GRCh38: 17:45983694-45983694
10 MAPT NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) SNV Uncertain Significance
548576 rs755131800 GRCh37: 17:44039750-44039750
GRCh38: 17:45962384-45962384

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 SNCA MIR132 MAPT CDK5 APP APOE
2 11.9 TH SNCA PRNP PRKN PARK7 NEFL
3 11.76 MAPT CDK5 APP APOE
4 11.62 TH NEFL CHAT
5
Show member pathways
11.54 TH DRD2 CDK5
6
Show member pathways
11.45 PRNP MAPT APP
7 11.43 MAPT CDK5 APP
8
Show member pathways
11.29 TH SLC6A3 ACHE
9 11.28 MAPT CDK5 APP APOE
10
Show member pathways
11.16 TH SLC6A3 CHAT ACHE
11 11.01 TH SNCA SLC6A3 PRKN PARK7 LRRK2
12 10.97 TH SNCA SLC6A3 PRKN PARK7
13
Show member pathways
10.94 TH SLC6A3 DRD2
14 10.62 ACHE CHAT TH
15 10.37 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 17)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 10.3 TH PRNP MAPT LRRK2 DRD2 CDK5
2 perikaryon GO:0043204 10.18 APP CDK5 DRD2 LRRK2 TH
3 membrane raft GO:0045121 10.18 SLC6A3 PRNP PARK7 MAPT LRRK2 APP
4 neuronal cell body GO:0043025 10.18 APOE CDK5 LRRK2 MAPT SLC6A3 SNCA
5 neuromuscular junction GO:0031594 10.1 NEFL CDK5 APP ACHE
6 postsynapse GO:0098794 10.09 SNCA PRNP LRRK2 CDK5
7 axon terminus GO:0043679 10.04 SNCA SLC6A3 DRD2
8 terminal bouton GO:0043195 10.03 TH PRNP LRRK2
9 growth cone GO:0030426 10 SNCA NEFL MAPT LRRK2 CDK5 APP
10 inclusion body GO:0016234 9.99 SNCA PRNP LRRK2
11 cell projection GO:0042995 9.97 TH SNCA SLC6A3 PRKN NEFL MAPT
12 synapse GO:0045202 9.97 ACHE APP CDK5 CHAT DRD2 LRRK2
13 axon GO:0030424 9.96 APP CDK5 DRD2 LRRK2 MAPT NEFL
14 multivesicular body, internal vesicle GO:0097487 9.84 LRRK2 APOE
15 main axon GO:0044304 9.83 APP MAPT
16 dopaminergic synapse GO:0098691 9.83 DRD2 PRKN SLC6A3
17 neuron projection GO:0043005 9.6 TH SLC6A3 PRKN PARK7 NEFL MAPT

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 10.29 PRKN PARK7 MIR132 MAPT APP APOE
2 negative regulation of neuron apoptotic process GO:0043524 10.27 SNCA PRKN PARK7 APOE
3 neuron projection development GO:0031175 10.26 MAPT CDK5 APP APOE
4 axonogenesis GO:0007409 10.23 NEFL DRD2 CDK5 APP
5 excitatory postsynaptic potential GO:0060079 10.21 SNCA LRRK2 DRD2 CDK5
6 mitochondrion organization GO:0007005 10.2 PRKN PARK7 LRRK2 CDK5
7 positive regulation of protein binding GO:0032092 10.19 APP CDK5 LRRK2 PRKN
8 synapse organization GO:0050808 10.18 SNCA MAPT APP
9 protein destabilization GO:0031648 10.16 SNCA PRNP PRKN
10 visual learning GO:0008542 10.15 APP CDK5 DRD2
11 cellular response to amyloid-beta GO:1904646 10.14 PRNP CDK5 APP
12 adult locomotory behavior GO:0008344 10.13 SNCA PRKN PARK7 APP
13 long-term memory GO:0007616 10.12 PRNP DRD2 APOE
14 regulation of dopamine secretion GO:0014059 10.11 SNCA PRKN DRD2
15 synapse assembly GO:0007416 10.11 MAPT DRD2 CDK5 ACHE
16 negative regulation of protein phosphorylation GO:0001933 10.1 PRNP PRKN PARK7 LRRK2 DRD2
17 cellular response to copper ion GO:0071280 10.09 SNCA PRNP APP
18 microglial cell activation GO:0001774 10.09 SNCA MAPT APP
19 locomotory behavior GO:0007626 10.09 APP DRD2 PRKN SLC6A3 TH
20 response to nicotine GO:0035094 10.05 DRD2 SLC6A3 TH
21 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 10.05 PRKN PARK7 LRRK2
22 response to cocaine GO:0042220 10.04 SLC6A3 DRD2 CDK5
23 regulation of long-term neuronal synaptic plasticity GO:0048169 10.03 SNCA DRD2 APP
24 positive regulation of neuron death GO:1901216 10.02 SNCA PRNP MAPT CDK5
25 negative regulation of neuron death GO:1901215 10.02 SNCA PRKN PARK7 LRRK2 CDK5
26 regulation of mitochondrial fission GO:0090140 10 MAPT LRRK2
27 response to oxidative stress GO:0006979 10 APOE APP LRRK2 PARK7 PRKN PRNP
28 adenohypophysis development GO:0021984 9.99 SLC6A3 DRD2
29 negative regulation of oxidative stress-induced cell death GO:1903202 9.99 PRKN PARK7
30 regulation of locomotion GO:0040012 9.99 LRRK2 SNCA
31 intracellular distribution of mitochondria GO:0048312 9.99 LRRK2 MAPT
32 negative regulation of long-term synaptic potentiation GO:1900272 9.99 PRNP APP APOE
33 positive regulation of autophagy of mitochondrion GO:1903599 9.98 PARK7 PRKN
34 mating behavior GO:0007617 9.98 APP TH
35 negative regulation of protein export from nucleus GO:0046826 9.97 PARK7 CDK5
36 dopamine biosynthetic process GO:0042416 9.97 TH SNCA SLC6A3
37 amyloid fibril formation GO:1990000 9.97 SNCA PRKN MAPT APP
38 positive regulation of amyloid fibril formation GO:1905908 9.95 APP APOE
39 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.94 PRKN PARK7
40 dopamine metabolic process GO:0042417 9.93 DRD2 PRKN SNCA
41 hyaloid vascular plexus regression GO:1990384 9.93 TH SLC6A3 DRD2
42 regulation of synaptic vesicle transport GO:1902803 9.92 LRRK2 PRKN
43 regulation of synaptic vesicle recycling GO:1903421 9.89 SNCA CDK5
44 cellular response to manganese ion GO:0071287 9.76 TH PRKN LRRK2 APP
45 dopamine uptake involved in synaptic transmission GO:0051583 9.65 SNCA SLC6A3 PRKN PARK7 DRD2
46 synaptic transmission, dopaminergic GO:0001963 9.23 TH SNCA PRKN PARK7 DRD2 CDK5

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 10.17 TH PRKN PARK7 MAPT CBS APP
2 protein-containing complex binding GO:0044877 10.1 APOE DRD2 NEFL PARK7 PRKN PRNP
3 copper ion binding GO:0005507 9.95 SNCA PRNP PARK7
4 tau protein binding GO:0048156 9.91 SNCA CDK5 APOE
5 tubulin binding GO:0015631 9.91 LRRK2 MAPT PRKN PRNP
6 lipoprotein particle binding GO:0071813 9.76 MAPT APOE
7 cupric ion binding GO:1903135 9.71 PRNP PARK7
8 identical protein binding GO:0042802 9.7 ACHE APOE APP CBS DRD2 LRRK2
9 cuprous ion binding GO:1903136 9.63 SNCA PRNP PARK7
10 dopamine binding GO:0035240 9.43 TH SLC6A3 DRD2

Sources for Supranuclear Palsy, Progressive, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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