CyageniCyagen
HomeAI Assistant
Toolbox
Databases
Resources
About Us
AI Tools
RNA Splicer
ASO Designer
Pathogenicity Predictor
Bioinfo Tools
Sequence Viewer
Mutation Direct
Antibody Discovery
Target Insights
Computational Analysis
Databases
Gene Database
Disease Database
Model Database
Mutation Database
Learn
Learning Center
Explore
iCyagen
Cyagen
OriCellTM
AbSeekTM
Contact
Contact Us
EN
中文
Progressive Supranuclear Palsy (PSP)
Alias:
Progressive Supranuclear Ophthalmoplegia
|
Steele-Richardson-Olszewski Syndrome
|
Supranuclear Palsy, Progressive
|
Psp Syndrome
|
Steele-Richardson-Olszewksi Syndrome
|
Steele-Richardson-Olszewski Disease
|
Supranuclear Palsy Progressive
|
Richardson's Syndrome
|
Psp
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by ocular motor dysfunction, postural instability, akinesia-rigidity, and cognitive dysfunction. It involves the gradual deterioration and death of specific volumes of the brain, linked to 4-repeat tau pathology. Symptoms 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 may be misdiagnosed as Parkinson's disease due to similar symptoms. Most cases appear sporadic, but some are familial. Genetic changes in the MAPT gene have been linked to PSP, and other genetic factors are under study. PSP affects movement, balance, thinking, and eye movement, with symptoms typically appearing in mid- to late adulthood. Loss of balance, falls, walking difficulties, slow movements, stiffness, and abnormal eye movements are common. Additional features include slow and slurred speech, swallowing problems, personality changes, cognitive difficulties, and a need for wheelchair assistance as the disease progresses. Eye movement issues, including vertical gaze palsy, are a hallmark of PSP. Medications like levodopa and amantadine may be beneficial in some cases.
Related ID:
MALACARDS: PRG006
|
MESH: D013494
|
ICD11: 1493396558
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
Ot
Other
Adult
1-9/100000
Annual incidence:
1-9/100000 (Worldwide)
1-9/1000000 (Libyan Arab Jamahiriya, United States, Australia)
Point prevalence:
1-9/100000 (Worldwide, United States, Italy, United Kingdom)
1-5/10000 (Europe, Guadeloupe)
42
611
3
PRG006
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed
Cyagen
Home
Tools
Database
Resources
About Us
Email: icyagen-support@cyagen.com
Phone: +86 18620792549
Address: No.98, Xiangxue Road, Huangpu District, Guangzhou City
Follow us on social media
Contact us via LinkedIn
Link: https://www.linkedin.com/company/cyagen-biosciences
Copy
Contact us via YouTube
Link: https://www.youtube.com/@Cyagen
Copy
iCyagen
Copyright © 2024 Cyagen Biosciences. All Rights Reserved.
Privacy Policy
User Agreement
Back to top