AD & FTD Mutation Database
The Alzheimer Disease & Frontotemporal Dementia Mutation Database (AD&FTDMDB) catalogues all AD and FTD mutations reported in the literature, communicated at scientific meetings or directly submitted through this web site. Mutations can be retrieved based on the gene, phenotype and publication.
Mutations are described at the genomic, mRNA and protein level. For each mutation, the number of unrelated patients/families is recorded and family details are available. For patients, the phenotype with or without autopsy confirmation, onset age and age at death are recorded when known. In addition, for families the inheritance pattern, mean onset ages, mean ages at death and mean disease duration are given. It is also indicated whether co-segregation of the mutation with the disease is proven. Also, citations to the original publications are given with a link to their NLM PubMed record if available.
Polymorphisms with a predicted effect on the protein level are also collected. Their pathogenic nature is excluded based on lack of co-segregation with disease in families, presence in aged controls and/or functional studies e.g. demonstrating the absence of effect on Aβ processing.
Statistical information on the number and occurrence of mutations is available. The presented figures are actively calculated at retrieval time and therefore reflect the current database content.
Note! When using AD&FTDMDB, please consult the How To Cite page for information on how to cite AD&FTDMDB in your publication.