Frontotemporal dementia (FTD) is a form of dementia characterized by behavioral changes, cognitive decline, and loss of memory. It is the most common subtype of frontotemporal lobar degeneration (FTLD). FTD presents as a behavioral variant with social and personal conduct changes, executive dysfunction, and decreased speech output. Another subtype is 'semantic dementia,' involving language comprehension loss and impaired recognition. 'Primary progressive aphasia' is a third subtype marked by speech production reduction and communication difficulties. Memory is relatively preserved in the early stages. FTD is often linked to parkinsonism or motor neuron disease resembling ALS. Neuropathological changes include frontotemporal atrophy, basal ganglia atrophy, and tau protein deposits in glial cells and neurons.
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.