PSNP1
MCID: SPR098
MIFTS: 56

Supranuclear Palsy, Progressive (PSNP1) malady

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

Aliases & Classifications for Supranuclear Palsy, Progressive

Aliases & Descriptions for Supranuclear Palsy, Progressive:

Name: Supranuclear Palsy, Progressive 54 50 25 13 42
Progressive Supranuclear Palsy 12 50 25 51 56 41 14 69
Steele-Richardson-Olszewski Syndrome 12 50 25 51 66
Progressive Supranuclear Ophthalmoplegia 12 25 29
Psp 50 25 66
Familial Progressive Supranuclear Palsy 50 69
Progressive Supranuclear Palsy 1 66
Supranuclear Palsy Progressive 52
Richardson's Syndrome 25
Psp Syndrome 56
Psnp1 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 601104
Disease Ontology 12 DOID:678
ICD10 33 G23.1
MeSH 42 D013494
NCIt 47 C85028
Orphanet 56 ORPHA683
ICD10 via Orphanet 34 G23.1
MESH via Orphanet 43 D013494
UMLS via Orphanet 70 C0038868
MedGen 40 C0038868
UMLS 69 C0038868

Summaries for Supranuclear Palsy, Progressive

OMIM : 54 Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to... (601104) more...

MalaCards based summary : Supranuclear Palsy, Progressive, also known as progressive supranuclear palsy, is related to supranuclear palsy, progressive atypical and progressive supranuclear palsy-corticobasal syndrome, and has symptoms including tremor, pseudobulbar signs and bradykinesia. An important gene associated with Supranuclear Palsy, Progressive 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 and eye, and related phenotypes are behavior/neurological and homeostasis/metabolism

NIH Rare Diseases : 50 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. last updated: 1/28/2016

UniProtKB/Swiss-Prot : 66 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.

MedlinePlus : 41 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 : 51 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.

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.

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.

Wikipedia : 71 Progressive supranuclear palsy (PSP; or the Steele-Richardson-Olszewski syndrome, after the doctors who... more...

Related Diseases for Supranuclear Palsy, Progressive

Diseases in the Supranuclear Palsy, Progressive family:

Supranuclear Palsy, Progressive, 2 Supranuclear Palsy, Progressive, 3
Progressive Supranuclear Palsy, Mapt-Related

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

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive atypical 12.2
2 progressive supranuclear palsy-corticobasal syndrome 12.2
3 supranuclear palsy, progressive, 2 12.1
4 supranuclear palsy, progressive, 3 12.1
5 classic progressive supranuclear palsy syndrome 12.1
6 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 12.1
7 pneumothorax, primary spontaneous 11.5
8 keratosis palmoplantaris striata 10.3 APOE MAPT
9 scrotum basal cell carcinoma 10.2 MAPT SLC6A3
10 riedel's fibrosing thyroiditis 10.2 LRRK2 MAPT SNCA
11 deafness, autosomal recessive 101 10.2 MAPT RPS27A SNCA
12 cyprus facial neuromusculoskeletal syndrome 10.2 MAPT RPS27A SNCA
13 ceroid lipofuscinosis, neuronal, 1 10.2 LRRK2 PARK7 SNCA
14 lethal congenital contracture syndrome 8 10.2 LRRK2 PARK7 SNCA
15 multiple system atrophy 10.2 PARK7 SNCA
16 parkinson disease 6, early onset 10.2 LRRK2 PARK7
17 thyrotropin-releasing hormone deficiency 10.2 LRRK2 SLC6A3 SNCA
18 thrombosis 10.2 LRRK2 PARK7 SNCA
19 trichothiodystrophy 3, photosensitive 10.1 LRRK2 PARK7 SNCA
20 transient neonatal myasthenia gravis 10.1 LRRK2 SNCA
21 cystic echinococcosis 10.1 CHAT RPS27A SNCA
22 proteus syndrome, somatic 10.1 RPS27A SLC6A3 SNCA
23 benign partial epilepsy with secondarily generalized seizures in infancy 10.1 LRRK2 MAPT SLC6A3 SNCA
24 juvenile amyotrophic lateral sclerosis with dementia 10.1 APP MAPT SNCA
25 atrial septal defect 9 10.1 APP MAPT SNCA
26 immune-mediated encephalomyelitis 10.1 APOE CHAT
27 meckel syndrome 10 10.1 APOE APP MAPT
28 spink1-related hereditary pancreatitis 10.1 LRRK2 MAPT PARK7 SNCA
29 protein r deficiency 10.1 GRN MAPT
30 plekhm1-related autosomal recessive osteopetrosis 10.1 LRRK2 MAPT PARK7 SNCA
31 gata1-related thrombocytopenia 10.1 GRN MAPT
32 hereditary paraganglioma-pheochromocytoma syndromes 10.0 GRN MAPT
33 ichthyosis lamellar 2 10.0 APOE APP MAPT
34 hard palate cancer 10.0 APOE APP SNCA
35 femoral neuropathy 10.0 GRN MAPT SLC6A3
36 pythiosis 10.0 ACHE SNCA TH
37 allergic bronchopulmonary aspergillosis, familial 10.0 APOE APP MAPT RPS27A
38 andersen syndrome 10.0 GRN MAPT RPS27A
39 bone dysplasia azouz type 9.9 ACHE APOE APP MAPT
40 acne inversa, familial, 3 9.9 APOE CHAT MAPT RPS27A SNCA
41 klippel-feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism 9.9 LRRK2 PARK7 SNCA TH
42 lower gum cancer 9.9 ACHE LRRK2 RPS27A SLC6A3 SNCA
43 kashin-beck disease 9.9 ACHE CHAT TH
44 hypoparathyroidism-intellectual disability-dysmorphism syndrome 9.9 ACHE TH
45 ovarian mucinous adenocarcinoma 9.9 ACHE SLC6A3 SNCA TH
46 severe congenital nemaline myopathy 9.9 APOE GRN MAPT RPS27A
47 postauricular lymphadenitis 9.9 CBS GRN MAPT
48 pancreatic solid pseudopapillary carcinoma 9.9 CBS GRN MAPT
49 mucopolysaccharidosis iv 9.8 GRN MAPT RPS27A
50 cerebroretinal vasculopathy 9.8 GRN MAPT

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



Diseases related to Supranuclear Palsy, Progressive

Symptoms & Phenotypes for Supranuclear Palsy, Progressive

Symptoms by clinical synopsis from OMIM:

601104

Clinical features from OMIM:

601104

Human phenotypes related to Supranuclear Palsy, Progressive:

56 32 (show all 44)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 56 32 Occasional (29-5%) HP:0001337
2 pseudobulbar signs 56 32 Frequent (79-30%) HP:0002200
3 bradykinesia 56 32 Frequent (79-30%) HP:0002067
4 depression 56 32 Frequent (79-30%) HP:0000716
5 dysphagia 56 32 Very frequent (99-80%) HP:0002015
6 delayed speech and language development 56 32 Frequent (79-30%) HP:0000750
7 falls 56 32 Very frequent (99-80%) HP:0002527
8 cerebral cortical atrophy 56 32 Frequent (79-30%) HP:0002120
9 memory impairment 56 32 Frequent (79-30%) HP:0002354
10 aphasia 56 32 Frequent (79-30%) HP:0002381
11 rigidity 56 32 Occasional (29-5%) HP:0002063
12 dementia 56 32 Occasional (29-5%) HP:0000726
13 blepharospasm 56 32 Frequent (79-30%) HP:0000643
14 impulsivity 56 32 Very frequent (99-80%) HP:0100710
15 supranuclear gaze palsy 56 32 Very frequent (99-80%) HP:0000605
16 supranuclear ophthalmoplegia 56 32 Very frequent (99-80%) HP:0000623
17 postural instability 56 32 Very frequent (99-80%) HP:0002172
18 unsteady gait 56 32 Very frequent (99-80%) HP:0002317
19 neuronal loss in central nervous system 56 32 Very frequent (99-80%) HP:0002529
20 abnormal synaptic transmission 56 32 Very frequent (99-80%) HP:0012535
21 vertical supranuclear gaze palsy 56 32 Frequent (79-30%) HP:0000511
22 slow saccadic eye movements 56 32 Frequent (79-30%) HP:0000514
23 gliosis 56 32 Frequent (79-30%) HP:0002171
24 photophobia 32 HP:0000613
25 blurred vision 32 HP:0000622
26 dystonia 56 Frequent (79-30%)
27 abnormality of eye movement 56 Occasional (29-5%)
28 diplopia 32 HP:0000651
29 dysarthria 32 HP:0001260
30 cognitive impairment 56 Frequent (79-30%)
31 irritability 32 HP:0000737
32 gait imbalance 32 HP:0002141
33 apathy 32 HP:0000741
34 parkinsonism 32 HP:0001300
35 limb dystonia 32 HP:0002451
36 akinesia 32 HP:0002304
37 mutism 32 HP:0002300
38 neurofibrillary tangles 32 HP:0002185
39 eyelid apraxia 32 HP:0000658
40 frontal release signs 32 HP:0000743
41 frontolimbic dementia 32 HP:0002439
42 granulovacuolar degeneration 32 HP:0002528
43 axial dystonia 32 HP:0002530
44 retrocollis 32 HP:0002544

UMLS symptoms related to Supranuclear Palsy, Progressive:


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

MGI Mouse Phenotypes related to Supranuclear Palsy, Progressive:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 LRRK2 MAPT PARK7 SLC6A3 SNCA TH
2 homeostasis/metabolism MP:0005376 10.23 APOE APP CHAT CRHR1 GRN LRRK2
3 nervous system MP:0003631 10.15 ACHE APOE APP CHAT CRHR1 GRN
4 mortality/aging MP:0010768 10.14 GRN LRRK2 MAPT SLC6A3 SNCA TH
5 cellular MP:0005384 10.13 APOE APP GRN LRRK2 MAPT PARK7
6 integument MP:0010771 9.98 APOE APP LRRK2 MAPT SLC6A3 SNCA
7 no phenotypic analysis MP:0003012 9.97 ACHE APOE APP CRHR1 GRN LRRK2
8 normal MP:0002873 9.86 APP CHAT CRHR1 LRRK2 MAPT SLC6A3
9 respiratory system MP:0005388 9.63 ACHE APOE CHAT CRHR1 LRRK2 TH
10 taste/olfaction MP:0005394 9.26 APOE MAPT SLC6A3 SNCA
11 vision/eye MP:0005391 9.17 ACHE APOE CHAT CRHR1 GRN MAPT

Drugs & Therapeutics for Supranuclear Palsy, Progressive

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

(show top 50) (show all 85)
id 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
Rasagiline Approved Phase 3 136236-51-6 3052776
4
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
5 Cholinergic Agents Phase 3,Phase 2
6 Cholinesterase Inhibitors Phase 3,Phase 2
7 Neuroprotective Agents Phase 3,Phase 2
8 Neurotransmitter Agents Phase 3,Phase 2
9 Protective Agents Phase 3,Phase 2,Phase 1
10 Micronutrients Phase 2, Phase 3, Phase 1
11 Trace Elements Phase 2, Phase 3, Phase 1
12 Ubiquinone Phase 2, Phase 3
13 Vitamins Phase 2, Phase 3, Phase 1
14 Anti-Bacterial Agents Phase 3
15 Anti-Infective Agents Phase 3
16 Anticonvulsants Phase 3,Phase 2
17 Excitatory Amino Acid Antagonists Phase 3
18 Excitatory Amino Acids Phase 3
19
Coenzyme Q10 Experimental, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
20
Donepezil Approved Phase 2 120014-06-4 3152
21
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
22
Acetylcarnitine Approved, Investigational Phase 1, Phase 2 3040-38-8 1
23
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
24 Nootropic Agents Phase 2,Phase 1
25 Anesthetics Phase 1, Phase 2
26 Pharmaceutical Solutions Phase 1, Phase 2
27 Antimanic Agents Phase 2,Phase 1
28 Central Nervous System Depressants Phase 2,Phase 1
29 GABA Agents Phase 2
30 Psychotropic Drugs Phase 2,Phase 1
31 Tranquilizing Agents Phase 2,Phase 1
32 Antioxidants Phase 1, Phase 2
33 Thioctic Acid Phase 1, Phase 2
34 Vitamin B Complex Phase 1, Phase 2
35 Antidepressive Agents Phase 1, Phase 2
36 Lithium carbonate Phase 1, Phase 2 554-13-2
37 Fluorodeoxyglucose F18 Phase 2
38 Radiopharmaceuticals Phase 2,Early Phase 1
39 Alpha-lipoic Acid Nutraceutical Phase 1, Phase 2
40 carnitine Nutraceutical Phase 1, Phase 2
41 Folate Nutraceutical Phase 1, Phase 2
42 Vitamin B9 Nutraceutical Phase 1, Phase 2
43
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
44
Benzoic Acid Approved Phase 1 65-85-0 243
45
Salicylic acid Approved, Vet_approved Phase 1 69-72-7 338
46 Dopamine Agents Phase 1
47 Analgesics Phase 1
48 Analgesics, Non-Narcotic Phase 1
49 Anti-Inflammatory Agents Phase 1
50 Anti-Inflammatory Agents, Non-Steroidal Phase 1

Interventional clinical trials:

(show top 50) (show all 78)
id Name Status NCT ID Phase
1 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4
2 Study to Evaluate the Safety and Efficacy of Davunetide for the Treatment of Progressive Supranuclear Palsy Completed NCT01110720 Phase 2, Phase 3
3 Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP) Completed NCT00382824 Phase 2, Phase 3
4 Effects of Coenzyme Q10 in PSP and CBD Completed NCT00532571 Phase 2, Phase 3
5 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3
6 Efficacy of RIVAstigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy Recruiting NCT02839642 Phase 3
7 Efficacy, Tolerability and Safety of Azilect in Subjects With Progressive Supranuclear Palsy Terminated NCT01187888 Phase 3
8 Neuroprotection and Natural History in Parkinson's Plus Syndromes (NNIPPS) Terminated NCT00211224 Phase 3
9 Study of the Distractibility Syndrome in Patients With Progressive Supranuclear Palsy Unknown status NCT00139373 Phase 2
10 Clinical Trial to Evaluate Bone Marrow Stem Cell Therapy for PSP, a Rare Form of Parkinsonism Unknown status NCT01824121 Phase 1, Phase 2
11 Efficacy Study for Treatment of Dementia in Progressive Supranuclear Palsy Unknown status NCT00522015 Phase 2
12 Trial of Valproic Acid in Patients With Progressive Supranuclear Palsy (Depakine) Completed NCT00385710 Phase 2
13 Alpha-lipoic Acid/L-acetyl Carnitine for Progressive Supranuclear Palsy Completed NCT01537549 Phase 1, Phase 2
14 Study About Safety and Efficacy of Coenzyme Q10 in Progressive Supranuclear Palsy Completed NCT00328874 Phase 2
15 A Pilot Trial of Lithium in Subjects With Progressive Supranuclear Palsy or Corticobasal Degeneration Completed NCT00703677 Phase 1, Phase 2
16 Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) to Treat Progressive Supranuclear Palsy Completed NCT00005903 Phase 2
17 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography Completed NCT01824056 Phase 2
18 A Study to Assess Efficacy, Safety, Tolerability, and Pharmacokinetics of ABBV-8E12 in Progressive Supranuclear Palsy Recruiting NCT02985879 Phase 2
19 Study of BMS-986168 in Patients With Progressive Supranuclear Palsy Recruiting NCT03068468 Phase 2
20 Davunetide (AL-108) in Predicted Tauopathies - Pilot Study Active, not recruiting NCT01056965 Phase 2
21 Tau Imaging in Subjects With Progressive Supranuclear Palsy, Corticobasal Degeneration and Healthy Volunteers Completed NCT02167594 Phase 1
22 Evaluation of [18F]MNI-777 PET as a Marker of Tau Pathology in Subjects With Tauopathies Compared to Healthy Subjects Completed NCT02103894 Phase 1
23 Open Label Treatment With tDCS for Parkinson's and Related Disorders for Improvement of Speech, Gait and Mood Completed NCT02104401 Phase 1
24 Young Plasma Transfusions for Progressive Supranuclear Palsy Recruiting NCT02460731 Phase 1
25 A 6 Month, Open-Label, Pilot Futility Clinical Trial of Oral Salsalate for Progressive Supranuclear Palsy Recruiting NCT02422485 Phase 1
26 Safety, Tolerability, and Pharmacokinetics of C2N-8E12 in Subjects With Progressive Supranuclear Palsy Active, not recruiting NCT02494024 Phase 1
27 Multiple Ascending Dose Study of Intravenously Administered BMS-986168 in Patients With Progressive Supranuclear Palsy Active, not recruiting NCT02460094 Phase 1
28 Safety Study of TPI-287 to Treat CBS and PSP Active, not recruiting NCT02133846 Phase 1
29 Extension Study of BMS-986168 in Patients With Progressive Supranuclear Palsy Who Participated in CN002003 Enrolling by invitation NCT02658916 Phase 1
30 Postural Instability in Progressive Supranuclear Palsy Unknown status NCT01563276
31 Foot Mechanical Stimulation for Treatment of Gait and Gait Related Disorders in Parkinson's Disease and Progressive Supranuclear Palsy. Unknown status NCT01815281
32 Robot Walking Rehabilitation in Parkinson's Disease Unknown status NCT01668407
33 Diagnostic and Prognostic Biomarkers in Parkinson Disease Unknown status NCT00653783
34 Innovative Biomarkers in Alzheimer's Disease and Frontotemporal Dementia (FTD): Preventative and Personalized Unknown status NCT01403519
35 The Sunnybrook Dementia Study: Mapping Brain Changes in Alzheimer's, Vascular and Other Dementias Unknown status NCT01800214
36 Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian Syndromes Unknown status NCT00368199 Early Phase 1
37 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
38 Deep TMS for the Treatment of Patients With Parkinson's Disease and Progressive Supranuclear Palsy Completed NCT02734485
39 Rehabilitation in Patients With Progressive Supranuclear Palsy Completed NCT02109393
40 Evaluating Cerebrospinal Fluid Biomarkers in Alzheimer's, Progressive Supranuclear Palsy Subjects, and Controls Completed NCT01348061
41 A Pilot Clinical Trial of Pyruvate, Creatine, and Niacinamide in Progressive Supranuclear Palsy. Completed NCT00605930
42 Repetitive Transcranial Magnetic Stimulation (TMS) for Progressive Supranuclear Palsy and Corticobasal Degeneration Completed NCT01174771
43 Risk Factors for Progressive Supranuclear Palsy (PSP) Completed NCT00431301
44 2-(1-{6-[(2-[F-18]Fluoroethyl) (Methyl)Amino]-2-naphthyl} Ethylidene) Malononitrile-PET for in Vivo Diagnose of Tauopathy in Unclassified Parkinsonism Completed NCT02214862 Early Phase 1
45 Analysis of the Enteric Nervous System Using Colonic Biopsies Completed NCT01353183
46 MRI Study of Brain Activity in Healthy Adults and Individuals With Parkinsonism and Rapid Eye Movement Disorder. Completed NCT01547481
47 Prefrontal Cortex and Abstract Thinking Completed NCT01100281
48 Research of Biomarkers in Parkinson Disease Completed NCT00465790 Early Phase 1
49 Evaluation of [18F]MNI-815 as a Potential PET Radioligand for Imaging Tau Protein in the Brain of Patients With Tauopathies Completed NCT02531360 Early Phase 1
50 Diagnosis of Parkinson's Disease Using Diffusion Magnetic Resonance Imaging Completed NCT01715727

Search NIH Clinical Center for Supranuclear Palsy, Progressive

Cochrane evidence based reviews: supranuclear palsy, progressive

Genetic Tests for Supranuclear Palsy, Progressive

Genetic tests related to Supranuclear Palsy, Progressive:

id Genetic test Affiliating Genes
1 Progressive Supranuclear Ophthalmoplegia 29

Anatomical Context for Supranuclear Palsy, Progressive

MalaCards organs/tissues related to Supranuclear Palsy, Progressive:

39
Brain, Eye

Publications for Supranuclear Palsy, Progressive

Variations for Supranuclear Palsy, Progressive

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

66
id 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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MAPT NM_016835.4(MAPT): c.1853C> T (p.Pro618Leu) single nucleotide variant Pathogenic rs63751273 GRCh37 Chromosome 17, 44087755: 44087755
2 MAPT NM_016835.4(MAPT): c.14G> T (p.Arg5Leu) single nucleotide variant Pathogenic rs63750959 GRCh37 Chromosome 17, 44039717: 44039717
3 MAPT NM_016835.4(MAPT): c.2006C> T (p.Ser669Leu) single nucleotide variant Pathogenic rs63750425 GRCh37 Chromosome 17, 44096041: 44096041
4 MAPT NM_016835.4(MAPT): c.1859G> T (p.Gly620Val) single nucleotide variant Pathogenic rs63751391 GRCh37 Chromosome 17, 44087761: 44087761

Expression for Supranuclear Palsy, Progressive

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

Pathways for Supranuclear Palsy, Progressive

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 APOE APP LRRK2 MAPT PARK7 SLC6A3
2 11.68 APOE APP LRRK2 MAPT PARK7 SNCA
3 11.66 APOE APP MAPT
4 11.28 LRRK2 PARK7 SLC6A3 SNCA TH
5 11.26 APOE APP MAPT
6
Show member pathways
11.21 ACHE SLC6A3 TH
7 10.96 PARK7 SLC6A3 SNCA TH
8
Show member pathways
10.93 ACHE SLC6A3
9
Show member pathways
10.84 ACHE CHAT TH
10 10.51 ACHE CHAT TH
11 10.3 ACHE CHAT

GO Terms for Supranuclear Palsy, Progressive

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 ACHE APOE APP GRN LRRK2 RPS27A
2 dendrite GO:0030425 9.78 APOE LRRK2 MAPT TH
3 neuron projection GO:0043005 9.72 APP LRRK2 PARK7 SLC6A3 TH
4 membrane raft GO:0045121 9.67 APP LRRK2 PARK7 SLC6A3
5 synaptic vesicle GO:0008021 9.63 LRRK2 SNCA TH
6 presynapse GO:0098793 9.58 CHAT PARK7 SLC6A3
7 growth cone GO:0030426 9.56 APP LRRK2 MAPT SNCA
8 smooth endoplasmic reticulum GO:0005790 9.51 APP TH
9 inclusion body GO:0016234 9.49 LRRK2 SNCA
10 terminal bouton GO:0043195 9.46 APP LRRK2 SNCA TH
11 neuronal cell body GO:0043025 9.43 APOE LRRK2 MAPT SLC6A3 SNCA TH
12 axon GO:0030424 9.17 APP LRRK2 MAPT PARK7 SLC6A3 SNCA

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.81 APOE PARK7 SNCA
2 response to oxidative stress GO:0006979 9.81 APOE APP LRRK2
3 cellular protein metabolic process GO:0044267 9.78 APOE APP RPS27A SNCA
4 locomotory behavior GO:0007626 9.77 APP SLC6A3 TH
5 cellular response to oxidative stress GO:0034599 9.76 LRRK2 PARK7 SNCA
6 negative regulation of protein phosphorylation GO:0001933 9.67 LRRK2 PARK7 SNCA
7 regulation of neuron death GO:1901214 9.63 LRRK2 SNCA
8 regulation of neuronal synaptic plasticity GO:0048168 9.62 APOE SNCA
9 positive regulation of endocytosis GO:0045807 9.62 APOE SNCA
10 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.61 LRRK2 PARK7
11 microglial cell activation GO:0001774 9.61 MAPT SNCA
12 supramolecular fiber organization GO:0097435 9.6 MAPT SNCA
13 virion assembly GO:0019068 9.58 APOE RPS27A
14 adult locomotory behavior GO:0008344 9.58 APP PARK7 SNCA
15 amyloid precursor protein metabolic process GO:0042982 9.57 ACHE APOE
16 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.56 LRRK2 PARK7
17 mating behavior GO:0007617 9.55 APP TH
18 intracellular distribution of mitochondria GO:0048312 9.54 LRRK2 MAPT
19 synapse organization GO:0050808 9.54 APP MAPT SNCA
20 regulation of locomotion GO:0040012 9.52 LRRK2 SNCA
21 amyloid fibril formation GO:1990000 9.51 APP MAPT
22 synaptic transmission, dopaminergic GO:0001963 9.5 PARK7 SNCA TH
23 regulation of mitochondrial fission GO:0090140 9.46 LRRK2 MAPT
24 negative regulation of neuron death GO:1901215 9.46 APOE LRRK2 PARK7 SNCA
25 cellular response to manganese ion GO:0071287 9.43 LRRK2 TH
26 dopamine biosynthetic process GO:0042416 9.43 SLC6A3 SNCA TH
27 dopamine uptake involved in synaptic transmission GO:0051583 9.13 PARK7 SLC6A3 SNCA
28 neurotransmitter biosynthetic process GO:0042136 8.92 ACHE CHAT SLC6A3 TH

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

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.63 ACHE APOE CBS LRRK2 MAPT PARK7
2 identical protein binding GO:0042802 9.5 APOE APP CBS LRRK2 MAPT PARK7
3 protein phosphatase 2A binding GO:0051721 9.46 MAPT SLC6A3
4 ferrous iron binding GO:0008198 9.43 SNCA TH
5 dopamine binding GO:0035240 9.4 SLC6A3 TH
6 tau protein binding GO:0048156 9.37 APOE SNCA
7 lipoprotein particle binding GO:0071813 9.32 APOE MAPT
8 cuprous ion binding GO:1903136 9.26 PARK7 SNCA
9 enzyme binding GO:0019899 9.1 APP CBS MAPT PARK7 SNCA TH

Sources for Supranuclear Palsy, Progressive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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