MCID: SPR120
MIFTS: 70

Supranuclear Palsy, Progressive, 1

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

Aliases & Classifications for Supranuclear Palsy, Progressive, 1

MalaCards integrated aliases for Supranuclear Palsy, Progressive, 1:

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

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Supranuclear Palsy, Progressive, 1

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)

MalaCards based summary : Supranuclear Palsy, Progressive, 1, also known as progressive supranuclear palsy, is related to classic progressive supranuclear palsy syndrome and progressive supranuclear palsy-corticobasal syndrome, and has symptoms including back pain, headache and muscle rigidity. An important gene associated with Supranuclear Palsy, Progressive, 1 is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. The drugs Rivastigmine and Minocycline have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are depressivity and tremor

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

Genetics Home Reference : 25 Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.

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

MedlinePlus : 43 Progressive supranuclear palsy (PSP) is a rare brain disease. It affects brain cells that control the movement of your eyes. This leads to serious and permanent problems with balance and the way you walk. It usually occurs in middle-aged or elderly people. Symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. Doctors sometimes confuse PSP with Parkinson's disease or Alzheimer's disease. PSP has no cure and no effective treatments. Walking aids, special glasses and certain medicines might help somewhat. Although the disease gets worse over time, it isn't fatal on its own. However, PSP is dangerous because it increases your risk of pneumonia and choking from swallowing problems and injuries from falling. NIH: National Institute of Neurological Disorders and Stroke

NINDS : 54 Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some individuals describe this effect as a blurring. Affected individuals often show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia. The disorder's long name indicates that the disease begins slowly and continues to get worse (progressive), and causes weakness (palsy) by damaging certain parts of the brain above pea-sized structures called nuclei that control eye movements (supranuclear). PSP was first described as a distinct disorder in 1964, when three scientists published a paper that distinguished the condition from Parkinson's disease. It is sometimes referred to as Steele-Richardson-Olszewski syndrome, reflecting the combined names of the scientists who defined the disorder. Although PSP gets progressively worse, no one dies from PSP itself.

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

Wikipedia : 76 Progressive supranuclear palsy (PSP; or the Steele–Richardson–Olszewski syndrome, after the doctors who... 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 81)
# Related Disease Score Top Affiliating Genes
1 classic progressive supranuclear palsy syndrome 12.5
2 progressive supranuclear palsy-corticobasal syndrome 12.3
3 supranuclear palsy, progressive, 2 12.3
4 supranuclear palsy, progressive, 3 12.3
5 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 12.2
6 parkinson-dementia syndrome 11.5
7 simultanagnosia 10.9 APOE MAPT
8 hereditary late-onset parkinson disease 10.9 LRRK2 SNCA
9 posterior cortical atrophy 10.9 APOE MAPT
10 akinetic mutism 10.8 MAPT SLC6A3
11 neuronal intranuclear inclusion disease 10.8 MAPT RPS27A SNCA
12 progressive non-fluent aphasia 10.7 GRN MAPT
13 behavioral variant of frontotemporal dementia 10.7 GRN MAPT
14 familial idiopathic basal ganglia calcification 10.7 APOE APP MAPT
15 alzheimer disease 2 10.7 APOE APP MAPT
16 niemann-pick disease, type c1 10.7 APP MAPT SNCA
17 machado-joseph disease 10.7 RPS27A SLC6A3 SNCA
18 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.7 GRN MAPT RPS27A
19 cerebral amyloid angiopathy, cst3-related 10.7 APOE APP MAPT
20 senile plaque formation 10.7 APOE APP CHAT
21 echolalia 10.6 CBS GRN MAPT
22 tremor 10.6 LRRK2 MAPT PRKN SNCA
23 phonagnosia 10.6 GRN TARDBP
24 parkinson disease 10 10.6 LRRK2 PARK7 PRKN SNCA
25 parkinson disease 2, autosomal recessive juvenile 10.6 LRRK2 PARK7 PRKN SNCA
26 associative agnosia 10.6 GRN TARDBP
27 essential tremor 10.6 LRRK2 PRKN SLC6A3 SNCA
28 striatonigral degeneration 10.6 DRD2 SLC6A3 SNCA
29 early-onset parkinson's disease 10.6 LRRK2 PARK7 PRKN SNCA
30 pure autonomic failure 10.6 ACHE SNCA TH
31 brain injury 10.5 APOE DRD2 MAPT
32 cocaine abuse 10.5 DRD2 SLC6A3 SNCA
33 alexia 10.5 APOE TARDBP
34 leukoencephalopathy, hereditary diffuse, with spheroids 10.5 APP MAPT RPS27A SNCA
35 tendinosis 10.5 ACHE CHAT TH
36 hypoganglionosis 10.5 ACHE TH
37 postencephalitic parkinson disease 10.5 LRRK2 MAPT SNCA TARDBP
38 binswanger's disease 10.5 ACHE APOE APP MAPT
39 writing disorder 10.5 GRN TARDBP
40 alcohol-induced mental disorder 10.4 DRD2 SLC6A3
41 parkinson disease 3, autosomal dominant 10.4 LRRK2 MAPT PARK7 PRKN SNCA
42 mutism 10.4 GRN SLC6A3
43 corticobasal degeneration 10.4 LRRK2 MAPT RPS27A TARDBP
44 rem sleep behavior disorder 10.3 ACHE LRRK2 RPS27A SLC6A3 SNCA
45 gait apraxia 10.3 APOE APP CBS GRN
46 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.3 CBS GRN TARDBP
47 cerebrovascular disease 10.3 ACHE APOE APP CBS
48 ideomotor apraxia 10.2 CBS GRN MAPT TARDBP
49 basal ganglia disease 10.2 CBS GRN MAPT TARDBP
50 vascular dementia 10.2 ACHE APOE APP CHAT MAPT

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



Diseases related to Supranuclear Palsy, Progressive, 1

Symptoms & Phenotypes for Supranuclear Palsy, Progressive, 1

Symptoms via clinical synopsis from OMIM:

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

Abdomen Gastrointestinal:
dysphagia

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


Clinical features from OMIM:

601104

Human phenotypes related to Supranuclear Palsy, Progressive, 1:

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

UMLS symptoms related to Supranuclear Palsy, Progressive, 1:


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

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

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.46 CHAT CRHR1 DRD2 GRN LRRK2 MAPT
2 homeostasis/metabolism MP:0005376 10.4 ACHE APOE APP CHAT CRHR1 DRD2
3 cellular MP:0005384 10.35 APOE APP DRD2 GRN LRRK2 MAPT
4 growth/size/body region MP:0005378 10.34 TH ACHE APOE APP CHAT DRD2
5 mortality/aging MP:0010768 10.33 ACHE APOE APP CHAT CRHR1 DRD2
6 nervous system MP:0003631 10.31 TH ACHE APOE APP CHAT CRHR1
7 cardiovascular system MP:0005385 10.29 APOE APP CHAT CRHR1 DRD2 LRRK2
8 hematopoietic system MP:0005397 10.21 APP DRD2 GRN LRRK2 MAPT NDUFS4
9 integument MP:0010771 10.18 APOE APP DRD2 LRRK2 MAPT NDUFS4
10 no phenotypic analysis MP:0003012 10.15 ACHE APOE APP CRHR1 DRD2 GRN
11 muscle MP:0005369 10.13 ACHE APOE APP CHAT DRD2 MAPT
12 normal MP:0002873 10.06 CHAT CRHR1 DRD2 LRRK2 MAPT NDUFS4
13 respiratory system MP:0005388 9.91 DRD2 LRRK2 NDUFS4 PRKN TH ACHE
14 skeleton MP:0005390 9.81 APOE CHAT DRD2 LRRK2 NDUFS4 PRKN
15 taste/olfaction MP:0005394 9.35 SLC6A3 SNCA APOE DRD2 MAPT
16 vision/eye MP:0005391 9.23 CHAT CRHR1 GRN MAPT NDUFS4 TH

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 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivastigmine Approved, Investigational Phase 3,Phase 2 123441-03-2 77991
2
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
3
Pimavanserin Approved, Investigational Phase 3 706779-91-1 16058810
4
Rasagiline Approved Phase 3 136236-51-6 3052776
5
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
6
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3,Phase 3 303-98-0 5281915
7 Cholinergic Agents Phase 3,Phase 2
8 Cholinesterase Inhibitors Phase 3,Phase 2
9 Neuroprotective Agents Phase 3,Phase 2
10 Neurotransmitter Agents Phase 3,Phase 2
11 Protective Agents Phase 3,Phase 2,Phase 1
12 Micronutrients Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
13 Trace Elements Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
14 Ubiquinone Phase 2, Phase 3,Phase 3
15 Vitamins Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
16 Anti-Bacterial Agents Phase 3
17 Anti-Infective Agents Phase 3
18 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
19 Psychotropic Drugs Phase 3,Phase 2,Phase 1
20 Tranquilizing Agents Phase 3,Phase 2,Phase 1
21 Anticonvulsants Phase 3,Phase 2
22 Antiparkinson Agents Phase 3
23 Antipsychotic Agents Phase 3
24 Serotonin Agents Phase 3
25 Monoamine Oxidase Inhibitors Phase 3
26 Excitatory Amino Acid Antagonists Phase 3
27 Excitatory Amino Acids Phase 3
28
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
29
Donepezil Approved Phase 2 120014-06-4 3152
30
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
31
Acetylcarnitine Approved, Investigational Phase 1, Phase 2 3040-38-8 1
32
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2,Not Applicable 59-30-3 6037
33 Anesthetics Phase 1, Phase 2
34 Pharmaceutical Solutions Phase 1, Phase 2,Phase 2
35 Nootropic Agents Phase 2,Phase 1
36 Antimanic Agents Phase 2,Phase 1
37 GABA Agents Phase 2
38 Antioxidants Phase 1, Phase 2
39 Thioctic Acid Phase 1, Phase 2
40 Vitamin B Complex Phase 1, Phase 2,Not Applicable
41 Antidepressive Agents Phase 1, Phase 2
42 Lithium carbonate Phase 1, Phase 2 554-13-2
43 Fluorodeoxyglucose F18 Phase 2
44 Radiopharmaceuticals Phase 2,Early Phase 1
45 Alpha-lipoic Acid Nutraceutical Phase 1, Phase 2
46 carnitine Nutraceutical Phase 1, Phase 2
47 Folate Nutraceutical Phase 1, Phase 2,Not Applicable
48 Vitamin B9 Nutraceutical Phase 1, Phase 2,Not Applicable
49
Dopamine Approved Phase 1,Not Applicable 51-61-6, 62-31-7 681
50
Benzoic Acid Approved, Investigational Phase 1 65-85-0 243

Interventional clinical trials:

(show top 50) (show all 95)
# Name Status NCT ID Phase Drugs
1 Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3 Davunetide;Placebo
2 Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP) Completed NCT00382824 Phase 2, Phase 3 CoenzymeQ10
3 Effects of Coenzyme Q10 in PSP and CBD Completed NCT00532571 Phase 2, Phase 3 CoQ10
4 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3 Minocyline
5 Efficacy of RIVAstigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy Recruiting NCT02839642 Phase 3 Rivastigmine;Placebo
6 Relapse Prevention Study of Pimavanserin in Dementia-related Psychosis Recruiting NCT03325556 Phase 3 Placebo;Pimavanserin 34 mg;Pimavanserin 20 mg
7 Efficacy, Tolerability and Safety of Azilect in Subjects With Progressive Supranuclear Palsy Terminated NCT01187888 Phase 3 Rasagiline;Sugar pill
8 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3 Riluzole
9 Clinical Trial to Evaluate Bone Marrow Stem Cell Therapy for PSP, a Rare Form of Parkinsonism Unknown status NCT01824121 Phase 1, Phase 2
10 Study of the Distractibility Syndrome in Patients With Progressive Supranuclear Palsy Unknown status NCT00139373 Phase 2 donepezil
11 Efficacy Study for Treatment of Dementia in Progressive Supranuclear Palsy Unknown status NCT00522015 Phase 2 rivastigmine
12 Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy (Depakine) Completed NCT00385710 Phase 2 valproic acid;Placebo
13 Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear Palsy Completed NCT01537549 Phase 1, Phase 2 alpha-lipoic acid and L-acetyl carnitine
14 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2 Lithium
15 Study About Safety and Efficacy of Coenzyme Q10 in Progressive Supranuclear Palsy Completed NCT00328874 Phase 2 Coenzyme Q10
16 Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear Palsy Completed NCT00005903 Phase 2 GDNF & Synchro Med Infusion System
17 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Completed NCT01056965 Phase 2 davunetide (AL-108, NAP);Placebo nasal spray
18 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography Completed NCT01824056 Phase 2 18F-FDG
19 An Extension Study of ABBV-8E12 in Progressive Supranuclear Palsy (PSP) Recruiting NCT03391765 Phase 2 ABBV-8E12
20 A Study to Assess Efficacy, Safety, Tolerability, and Pharmacokinetics of ABBV-8E12 in Progressive Supranuclear Palsy Recruiting NCT02985879 Phase 2 placebo;ABBV-8E12
21 Study of BIIB092 in Participants With Progressive Supranuclear Palsy Recruiting NCT03068468 Phase 2
22 Novel Neuroimage Study in Tauopathies With Parkinsonism Active, not recruiting NCT03386669 Phase 2 F-18
23 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Not yet recruiting NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
24 Safety, Tolerability, and Pharmacokinetics of C2N-8E12 in Subjects With Progressive Supranuclear Palsy Completed NCT02494024 Phase 1 Single dose C2N-8E12;Single dose placebo
25 Multiple Ascending Dose Study of Intravenously Administered BMS-986168 in Patients With Progressive Supranuclear Palsy Completed NCT02460094 Phase 1 BMS-986168;Placebo
26 Tau Imaging in Subjects With Progressive Supranuclear Palsy, Corticobasal Degeneration and Healthy Volunteers Completed NCT02167594 Phase 1 18F-AV-1451;florbetapir F18
27 Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Tauopathies Compared to Healthy Subjects Completed NCT02103894 Phase 1 [18F]T807 ([18F]MNI-777)
28 Open Label Treatment With tDCS for Parkinson's and Related Disorders for Improvement of Speech, Gait and Mood Completed NCT02104401 Phase 1
29 Extension Study of ABBV-8E12 in Patients With Progressive Supranuclear Palsy (PSP) Who Completed Study C2N-8E12-WW-104 Recruiting NCT03413319 Phase 1 ABBV-8E12
30 Phase 1 Test-retest Evaluation of [18F]MNI-958 PET Recruiting NCT03545789 Phase 1 [18F]MNI-958
31 Young Plasma Transfusions for Progressive Supranuclear Palsy Active, not recruiting NCT02460731 Phase 1
32 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear Palsy Active, not recruiting NCT02422485 Phase 1 Salsalate
33 Extension Study of BIIB092 in Participants With Progressive Supranuclear Palsy (PSP) Who Participated in CN002003 Active, not recruiting NCT02658916 Phase 1 BIIB092
34 Safety Study of TPI-287 to Treat CBS and PSP Active, not recruiting NCT02133846 Phase 1 TPI 287 2 mg/m2;TPI-287 20 mg/m2;Placebo;TPI-287 6.3 mg/m2
35 Postural Instability in Progressive Supranuclear Palsy Unknown status NCT01563276
36 Foot Mechanical Stimulation for Treatment of Gait and Gait Related Disorders in Parkinson's Disease and Progressive Supranuclear Palsy. Unknown status NCT01815281 Not Applicable
37 Biomarkers in Parkinsonian Syndromes Unknown status NCT02114242
38 Diagnostic and Prognostic Biomarkers in Parkinson Disease Unknown status NCT00653783
39 Parkinson's Disease, Diagnostic Observations (PADDO) Unknown status NCT01249768
40 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 l-123 Ioflupane
41 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
42 PET/MR Imaging in Patients With Short and Long Standing Parkinson's Disease Unknown status NCT02801110
43 Safety, Tolerability, and Efficacy of Two Different Oral Doses of NP031112 Versus Placebo in the Treatment of Patients With Mild-to-Moderate Progressive Supranuclear Palsy Completed NCT01049399 Not Applicable tideglusib;tideglusib;placebo
44 Deep TMS for the Treatment of Patients With Parkinson's Disease and Progressive Supranuclear Palsy Completed NCT02734485 Not Applicable
45 Rehabilitation in Patients With Progressive Supranuclear Palsy Completed NCT02109393 Not Applicable
46 Evaluating Cerebrospinal Fluid Biomarkers in Alzheimer's, Progressive Supranuclear Palsy Subjects, and Controls Completed NCT01348061
47 A Pilot Clinical Trial of Pyruvate, Creatine, and Niacinamide in Progressive Supranuclear Palsy. Completed NCT00605930 Not Applicable
48 Repetitive Transcranial Magnetic Stimulation (TMS) for Progressive Supranuclear Palsy and Corticobasal Degeneration Completed NCT01174771
49 Neuropsychological Evaluation for Early Diagnosis of PSP Completed NCT03478124
50 Risk Factors for Progressive Supranuclear Palsy (PSP) Completed NCT00431301

Search NIH Clinical Center for Supranuclear Palsy, Progressive, 1

Cochrane evidence based reviews: supranuclear palsy, progressive

Genetic Tests for Supranuclear Palsy, Progressive, 1

Genetic tests related to Supranuclear Palsy, Progressive, 1:

# Genetic test Affiliating Genes
1 Progressive Supranuclear Ophthalmoplegia 29 MAPT

Anatomical Context for Supranuclear Palsy, Progressive, 1

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

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

Publications for Supranuclear Palsy, Progressive, 1

Articles related to Supranuclear Palsy, Progressive, 1:

(show top 50) (show all 807)
# Title Authors Year
1
Traumatic Brain Injury and Firearm Use and Risk of Progressive Supranuclear Palsy Among Veterans. ( 29973911 )
2018
2
Clinical Routine FDG-PET Imaging of Suspected Progressive Supranuclear Palsy and Corticobasal Degeneration: A Gatekeeper for Subsequent Tau-PET Imaging? ( 29973914 )
2018
3
Neurogenic bladder in progressive supranuclear palsy: A comparison with Parkinson's disease and multiple system atrophy. ( 29356135 )
2018
4
Aphasia in Progressive Supranuclear Palsy: As Severe as Progressive Non-Fluent Aphasia. ( 29254097 )
2018
5
Anti-inflammatory drug use and progressive supranuclear palsy. ( 29307562 )
2018
6
DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy. ( 29499916 )
2018
7
Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype. ( 29926172 )
2018
8
Specificity and sensitivity of magnetic resonance imaging findings in the diagnosis of progressive supranuclear palsy. ( 28432758 )
2018
9
Association between semantic dementia and progressive supranuclear palsy. ( 29661923 )
2018
10
Palliative care and its emerging role in Multiple System Atrophy and Progressive Supranuclear Palsy. ( 28341224 )
2017
11
Neck Vibration Proprioceptive Postural Response Intact in Progressive Supranuclear Palsy unlike Idiopathic Parkinson's Disease. ( 29326649 )
2017
12
Clinical Profile of Dysphagia in Patients with Parkinson's Disease, Progressive Supranuclear Palsy and Multiple System Atrophy. ( 28799303 )
2017
13
Retinal degeneration in progressive supranuclear palsy measured by optical coherence tomography and scanning laser polarimetry. ( 28706282 )
2017
14
Increased basal ganglia binding of<sup>18</sup>F-AV-1451 in patients with progressive supranuclear palsy. ( 27709757 )
2017
15
Distinct patterns of imprecise consonant articulation among Parkinson's disease, progressive supranuclear palsy and multiple system atrophy. ( 27894006 )
2017
16
Abnormal Resting-State Functional Connectivity in Progressive Supranuclear Palsy and Corticobasal Syndrome. ( 28634465 )
2017
17
La belle indiffAcrence revisited: a case report on progressive supranuclear palsy misdiagnosed as conversion disorder. ( 28814874 )
2017
18
The Neuropsychology (Broadly Conceived) of Multiple System Atrophy, Progressive Supranuclear Palsy, and Corticobasal Degeneration. ( 28961692 )
2017
19
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. ( 28271184 )
2017
20
Which ante mortem clinical features predict progressive supranuclear palsy pathology? ( 28500752 )
2017
21
Progression of Microstructural Degeneration in Progressive Supranuclear Palsy and Corticobasal Syndrome: A Longitudinal Diffusion Tensor Imaging Study. ( 27310132 )
2016
22
Loss of substantia nigra hyperintensity on 7 Tesla MRI of Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. ( 26951846 )
2016
23
Features of Patients With Nonfluent/Agrammatic Primary Progressive Aphasia With Underlying Progressive Supranuclear Palsy Pathology or Corticobasal Degeneration. ( 27111692 )
2016
24
DCTN1 p.K56R in progressive supranuclear palsy. ( 27132499 )
2016
25
Obsessive compulsive personality disorder and Progressive Supranuclear Palsy. ( 27688199 )
2016
26
Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci. ( 27115769 )
2016
27
Finding a new therapeutic approach for no-option Parkinsonisms: mesenchymal stromal cells for progressive supranuclear palsy. ( 27160012 )
2016
28
Rho Kinase Inhibition as a Therapeutic for Progressive Supranuclear Palsy and Corticobasal Degeneration. ( 26818518 )
2016
29
Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration. ( 27709685 )
2016
30
Montreal Cognitive Assessment (MoCA) and Mini-Mental State Examination (MMSE) performance in progressive supranuclear palsy and multiple system atrophy. ( 27334897 )
2016
31
An autopsy-confirmed case of progressive supranuclear palsy with predominant postural instability. ( 27842578 )
2016
32
MRI gray and white matter measures in progressive supranuclear palsy and corticobasal syndrome. ( 27411806 )
2016
33
Progressive Supranuclear Palsy and Corticobasal Degeneration: Pathophysiology and Treatment Options. ( 27526039 )
2016
34
Progressive supranuclear palsy and corticobasal degeneration: Diagnostic challenges and clinicopathological considerations. ( 27561438 )
2016
35
Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes. ( 27163816 )
2016
36
Idiopathic Basal Ganglia Calcification Presented with Progressive Supranuclear Palsy-like Features. ( 26879023 )
2016
37
Tau pathology in aged cynomolgus monkeys is progressive supranuclear palsy/corticobasal degeneration- but not Alzheimer disease-like -Ultrastructural mapping of tau by EDX. ( 27842611 )
2016
38
Different decision deficits impair response inhibition in progressive supranuclear palsy and Parkinson's disease. ( 26582559 )
2016
39
The MAPT gene is differentially methylated in the progressive supranuclear palsy brain. ( 27709663 )
2016
40
Progressive supranuclear palsy motor phenotype in a patient with pineocytoma. ( 27432179 )
2016
41
Unusual phenotype of pathologically confirmed progressive supranuclear palsy with autonomic dysfunction and cerebellar ataxia: Case report. ( 27861346 )
2016
42
Autophagic and lysosomal defects in human tauopathies: analysis of post-mortem brain from patients with familial Alzheimer disease, corticobasal degeneration and progressive supranuclear palsy. ( 26936765 )
2016
43
Obsessive compulsive personality disorder in Progressive Supranuclear Palsy, Multiple System Atrophy and Essential Tremor. ( 27364040 )
2016
44
Environmental and occupational risk factors for progressive supranuclear palsy: Case-control study. ( 26854325 )
2016
45
Whole-Brain Atrophy Rate in Idiopathic Parkinson's Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy. ( 27190673 )
2016
46
Clinical and imaging findings of progressive supranuclear palsy with predominant cerebellar ataxia. ( 27030358 )
2016
47
microRNA profiling: increased expression of miR-147a and miR-518e in progressive supranuclear palsy (PSP). ( 27052995 )
2016
48
Regional expression of the MAPT gene is associated with loss of hubs in brain networks and cognitive impairment in Parkinson disease and progressive supranuclear palsy. ( 27697694 )
2016
49
Progressive Supranuclear Palsy: What Do We Know About it? ( 25732053 )
2015
50
Utility of Frontal Assessment Battery in detection of neuropsychological dysfunction in Richardson variant of progressive supranuclear palsy. ( 25666771 )
2015

Variations for Supranuclear Palsy, Progressive, 1

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

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

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

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

Expression for Supranuclear Palsy, Progressive, 1

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

Pathways for Supranuclear Palsy, Progressive, 1

GO Terms for Supranuclear Palsy, Progressive, 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.89 ACHE APP CHAT LRRK2 SNCA
2 dendrite GO:0030425 9.85 APOE DRD2 LRRK2 MAPT TH
3 membrane raft GO:0045121 9.78 APP LRRK2 PARK7 SLC6A3
4 neuronal cell body GO:0043025 9.73 APOE LRRK2 MAPT SLC6A3 SNCA TH
5 growth cone GO:0030426 9.67 APP LRRK2 MAPT SNCA
6 presynapse GO:0098793 9.62 CHAT PARK7 PRKN SLC6A3
7 mitochondrial respiratory chain complex I GO:0005747 9.58 NDUFS4 PARK7 SNCA
8 neuron projection GO:0043005 9.5 APP LRRK2 MAPT PARK7 PRKN SLC6A3
9 terminal bouton GO:0043195 9.46 APP LRRK2 SNCA TH
10 main axon GO:0044304 9.43 APP MAPT
11 axon GO:0030424 9.23 APP DRD2 LRRK2 MAPT PARK7 SLC6A3

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.93 APOE APP PRKN RPS27A SNCA
2 autophagy GO:0006914 9.92 DRD2 LRRK2 PARK7 PRKN
3 negative regulation of gene expression GO:0010629 9.91 APOE APP MAPT PARK7 PRKN TARDBP
4 mitochondrion organization GO:0007005 9.89 LRRK2 PARK7 PRKN
5 cellular response to oxidative stress GO:0034599 9.88 LRRK2 PARK7 SNCA
6 negative regulation of neuron apoptotic process GO:0043524 9.88 APOE PARK7 PRKN SNCA
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.87 APP PARK7 SNCA
8 response to oxidative stress GO:0006979 9.87 APOE APP LRRK2 PRKN
9 excitatory postsynaptic potential GO:0060079 9.86 DRD2 LRRK2 SNCA
10 negative regulation of cell death GO:0060548 9.86 DRD2 PARK7 PRKN
11 regulation of autophagy GO:0010506 9.85 LRRK2 MAPT PRKN
12 learning GO:0007612 9.82 APP PRKN TH
13 positive regulation of protein binding GO:0032092 9.82 APP LRRK2 PRKN
14 synapse organization GO:0050808 9.79 APP MAPT SNCA
15 response to nicotine GO:0035094 9.78 DRD2 SLC6A3 TH
16 adult locomotory behavior GO:0008344 9.78 APP PARK7 PRKN SNCA
17 locomotory behavior GO:0007626 9.77 APP DRD2 PRKN SLC6A3 TH
18 response to cocaine GO:0042220 9.75 DRD2 SLC6A3 SNCA
19 positive regulation of long-term synaptic potentiation GO:1900273 9.72 APP DRD2
20 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.72 LRRK2 PARK7
21 startle response GO:0001964 9.72 DRD2 PRKN
22 microglial cell activation GO:0001774 9.72 MAPT SNCA
23 regulation of dopamine secretion GO:0014059 9.72 DRD2 PRKN SNCA
24 negative regulation of neuron death GO:1901215 9.72 APOE LRRK2 PARK7 PRKN SNCA
25 negative regulation of voltage-gated calcium channel activity GO:1901386 9.71 CRHR1 DRD2
26 cellular response to dopamine GO:1903351 9.71 LRRK2 PRKN
27 locomotory exploration behavior GO:0035641 9.71 APOE LRRK2
28 supramolecular fiber organization GO:0097435 9.7 MAPT SNCA
29 prepulse inhibition GO:0060134 9.7 DRD2 SLC6A3
30 striatum development GO:0021756 9.7 DRD2 LRRK2
31 regulation of long-term neuronal synaptic plasticity GO:0048169 9.7 APP DRD2 SNCA
32 amyloid precursor protein metabolic process GO:0042982 9.69 ACHE APOE
33 virion assembly GO:0019068 9.69 APOE RPS27A
34 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 LRRK2 PARK7 PRKN
35 regulation of dopamine metabolic process GO:0042053 9.68 PRKN SLC6A3
36 amyloid fibril formation GO:1990000 9.68 APP MAPT
37 adenohypophysis development GO:0021984 9.68 DRD2 SLC6A3
38 negative regulation of long-term synaptic potentiation GO:1900272 9.67 APOE APP
39 astrocyte activation GO:0048143 9.67 APP MAPT
40 dopamine metabolic process GO:0042417 9.67 DRD2 PRKN SNCA
41 mating behavior GO:0007617 9.66 APP TH
42 intracellular distribution of mitochondria GO:0048312 9.66 LRRK2 MAPT
43 regulation of mitochondrial fission GO:0090140 9.65 LRRK2 MAPT
44 regulation of locomotion GO:0040012 9.65 LRRK2 SNCA
45 positive regulation of microglial cell activation GO:1903980 9.64 APP LRRK2
46 positive regulation of autophagy of mitochondrion GO:1903599 9.63 PARK7 PRKN
47 negative regulation of oxidative stress-induced cell death GO:1903202 9.63 PARK7 PRKN
48 dopamine biosynthetic process GO:0042416 9.63 SLC6A3 SNCA TH
49 negative regulation of protein phosphorylation GO:0001933 9.63 DRD2 LRRK2 PARK7 PRKN SNCA TARDBP
50 protein localization to mitochondrion GO:0070585 9.62 LRRK2 PRKN

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.8 ACHE APOE CBS DRD2 LRRK2 MAPT
2 tubulin binding GO:0015631 9.5 LRRK2 MAPT PRKN
3 enzyme binding GO:0019899 9.5 APP CBS MAPT PARK7 PRKN SNCA
4 tau protein binding GO:0048156 9.48 APOE SNCA
5 ubiquitin-specific protease binding GO:1990381 9.46 PARK7 PRKN
6 phospholipase binding GO:0043274 9.43 PRKN SNCA
7 lipoprotein particle binding GO:0071813 9.4 APOE MAPT
8 cuprous ion binding GO:1903136 9.37 PARK7 SNCA
9 dopamine binding GO:0035240 9.33 DRD2 SLC6A3 TH
10 identical protein binding GO:0042802 9.32 APOE APP CBS DRD2 LRRK2 MAPT

Sources for Supranuclear Palsy, Progressive, 1

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