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
Parkinson-Dementia Syndrome (PARDE)
Alias:
Progressive Supranuclear Palsy-Pure Akinesia with Gait Freezing Syndrome
|
Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome
|
Progressive Supranuclear Palsy-Predominant Parkinsonism Syndrome
|
Progressive Supranuclear Palsy-Apraxia of Speech Syndrome
|
Progressive Supranuclear Palsy-Corticobasal Syndrome
|
Progressive Supranuclear Palsy-Parkinsonism Syndrome
|
Steele-Richardson-Olszewski Syndrome Atypical
|
Supranuclear Palsy, Progressive, 1, Atypical
|
Supranuclear Palsy Progressive 1 Atypical
|
Psp-Pure Akinesia with Gait Freezing
|
Psp-Corticobasal Syndrome
|
Psp-Parkinsonism
|
Psp-Pnfa
|
Psp-Pagf
|
Psp-Aos
|
Psp-Cbs
|
Psp-P
|
Parde
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Parkinson-dementia syndrome is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. It is characterized by various symptoms such as speech and language disorders, limb rigidity, freezing of gait, and early parkinsonism. The disease progresses to include features like postural instability, axial rigidity, and facial immobility. Neuropathologically, it is associated with tau pathology and neuronal loss in specific brain areas, including the temporal cortex, midfrontal cortex, and subthalamic nucleus. The syndrome also presents with cognitive decline, ophthalmoparesis, and pyramidal signs due to neurofibrillary degeneration in the hippocampus, basal ganglia, and brainstem nuclei.
Related ID:
MALACARDS: PRK087
|
OMIM: 260540
|
MESH: D013494
|
ICD11: 1493396558
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AR
Autosomal recessive
Adult
1-9/1000000
Point prevalence:
1-9/1000000 (Europe)
<1/1000000 (Worldwide)
1-9/100000 (Europe)
1
62
11
PRK087
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