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.
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.