PARDE
MCID: SPR100
MIFTS: 28

Supranuclear Palsy, Progressive Atypical (PARDE) malady

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

Aliases & Classifications for Supranuclear Palsy, Progressive Atypical

Aliases & Descriptions for Supranuclear Palsy, Progressive Atypical:

Name: Supranuclear Palsy, Progressive Atypical 54 13
Parkinson-Dementia Syndrome 66 29
Parkinson-Dementia Syndrome Supranuclear Palsy, Progressive, 1, Atypical, Included 54
Progressive Supranuclear Palsy-Parkinsonism Syndrome 56
Atypical Progressive Supranuclear Palsy Syndrome 56
Steele-Richardson-Olszewski Syndrome Atypical 66
Supranuclear Palsy, Progressive, 1, Atypical 69
Supranuclear Palsy Progressive 1 Atypical 66
Progressive Supranuclear Palsy Atypical 50
Atypical Psp Syndrome 56
Psp-Parkinsonism 56
Atypical Psp 50
Psp-P 56
Parde 66

Characteristics:

Orphanet epidemiological data:

56
progressive supranuclear palsy-parkinsonism syndrome
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;
atypical progressive supranuclear palsy syndrome
Prevalence: 1-9/100000 (Europe);

HPO:

32
supranuclear palsy, progressive atypical:
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 260540
ICD10 via Orphanet 34 G23.1
MESH via Orphanet 43 C537240
UMLS via Orphanet 70 C1850077
MeSH 42 D013494
ICD10 33 F02.3

Summaries for Supranuclear Palsy, Progressive Atypical

UniProtKB/Swiss-Prot : 66 Parkinson-dementia syndrome: A syndrome characterized by parkinsonism, tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei.

MalaCards based summary : Supranuclear Palsy, Progressive Atypical, also known as parkinson-dementia syndrome, is related to supranuclear palsy, progressive and apraxia, and has symptoms including tremor, ophthalmoparesis and abnormal pyramidal signs. An important gene associated with Supranuclear Palsy, Progressive Atypical is MAPT (Microtubule Associated Protein Tau). The drugs Minocycline and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include eye.

Description from OMIM: 260540

Related Diseases for Supranuclear Palsy, Progressive Atypical

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

id Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive 11.0
2 apraxia 9.8
3 dementia 9.8

Symptoms & Phenotypes for Supranuclear Palsy, Progressive Atypical

Symptoms by clinical synopsis from OMIM:

260540

Clinical features from OMIM:

260540

Human phenotypes related to Supranuclear Palsy, Progressive Atypical:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 ophthalmoparesis 32 HP:0000597
3 abnormal pyramidal signs 32 HP:0007256
4 rigidity 32 HP:0002063
5 dementia 32 HP:0000726
6 kyphoscoliosis 32 HP:0002751
7 parkinsonism 32 HP:0001300
8 morphological abnormality of the pyramidal tract 32 HP:0002062

Drugs & Therapeutics for Supranuclear Palsy, Progressive Atypical

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

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minocycline Approved, Investigational Phase 3 10118-90-8 5281021
2 Micronutrients Phase 2, Phase 3
3 Trace Elements Phase 2, Phase 3
4 Ubiquinone Phase 2, Phase 3
5 Vitamins Phase 2, Phase 3
6 Anti-Bacterial Agents Phase 3
7 Anti-Infective Agents Phase 3
8
Coenzyme Q10 Experimental, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
9
Amantadine Approved 768-94-5 2130
10
Carbidopa Approved 28860-95-9 34359 38101
11
Entacapone Approved, Investigational 130929-57-6 5281081
12
Levodopa Approved 59-92-7 6047
13
Pramipexole Approved, Investigational 104632-26-0 59868 119570
14
Ropinirole Approved, Investigational 91374-20-8, 91374-21-9 5095 497540
15 Fluorides Early Phase 1
16 Radiopharmaceuticals Early Phase 1
17 Dihydroxyphenylalanine Early Phase 1

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Effects of Coenzyme Q10 in Progressive Supranuclear Palsy (PSP) Completed NCT00382824 Phase 2, Phase 3
2 Effects of Coenzyme Q10 in PSP and CBD Completed NCT00532571 Phase 2, Phase 3
3 Study About Efficacy and Safety to Treat Multi-System-Atrophy Completed NCT00146809 Phase 3
4 Transcranial Duplex Scanning and Single Photon Emission Computer Tomography (SPECT) in Parkinsonian Syndromes Unknown status NCT00368199 Early Phase 1
5 Predictive and Diagnostic Value of Tau and Beta-amyloid Markers in the Dementia of Parkinson's Disease Completed NCT02243982 Early Phase 1
6 Repetitive Transcranial Magnetic Stimulation (TMS) for Progressive Supranuclear Palsy and Corticobasal Degeneration Completed NCT01174771
7 Risk Factors for Progressive Supranuclear Palsy (PSP) Completed NCT00431301
8 Deep TMS for the Treatment of Patients With Parkinson's Disease and Progressive Supranuclear Palsy Completed NCT02734485
9 Research of Biomarkers in Parkinson Disease Completed NCT00465790 Early Phase 1
10 PROgressive Supranuclear Palsy CorTico-Basal Syndrome Multiple System Atrophy Longitudinal Study UK Recruiting NCT02778607
11 The Swedish BioFINDER 2 Study Recruiting NCT03174938
12 Parkinson's Disease, Diagnostic Observations (PADDO) Recruiting NCT01249768
13 Gait Analysis in Neurological Disease Recruiting NCT02994719
14 Study for the Early Diagnosis of Parkinson's Disease Active, not recruiting NCT02283073
15 PET/MR Imaging in Patients With Short and Long Standing Parkinson's Disease Not yet recruiting NCT02801110

Search NIH Clinical Center for Supranuclear Palsy, Progressive Atypical

Genetic Tests for Supranuclear Palsy, Progressive Atypical

Genetic tests related to Supranuclear Palsy, Progressive Atypical:

id Genetic test Affiliating Genes
1 Parkinson-Dementia Syndrome 29

Anatomical Context for Supranuclear Palsy, Progressive Atypical

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

39
Eye

Publications for Supranuclear Palsy, Progressive Atypical

Variations for Supranuclear Palsy, Progressive Atypical

ClinVar genetic disease variations for Supranuclear Palsy, Progressive Atypical:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MAPT NM_016835.4(MAPT): c.1838_1840delATA (p.Asn613del) deletion Pathogenic,risk factor rs63751392 GRCh37 Chromosome 17, 44087740: 44087742

Expression for Supranuclear Palsy, Progressive Atypical

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

Pathways for Supranuclear Palsy, Progressive Atypical

GO Terms for Supranuclear Palsy, Progressive Atypical

Sources for Supranuclear Palsy, Progressive Atypical

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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