Atypical progressive supranuclear palsy syndrome is a rare late-onset neurodegenerative disease that does not follow the typical pattern of progressive supranuclear palsy (PSP). It is characterized by PSP-tau pathology and can manifest in various ways, including PSP with predominant Parkinsonism, progressive gait freezing, corticobasal syndrome, speech/language disorder, frontal presentation, ocular motor dysfunction, and postural instability. Symptoms can affect movement, speech, and cognition. PSP is linked to 4-repeat tau pathology, leading to balance issues, slow movement, eye movement difficulties, and cognitive decline. It can be mistaken for other neurodegenerative diseases and is the second most common tauopathy after Alzheimer's disease. The cause involves tau protein accumulation in the brain, and treatments like levodopa and amantadine may help manage symptoms.
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.