Alzheimer Disease & Frontotemporal Dementia Mutation Database





Alzheimer Disease & Frontotemporal Dementia Mutation Database

The Alzheimer Disease & Frontotemporal Dementia Mutation Database (AD&FTDMDB) aims at collecting all known mutations and non-pathogenic coding variations in the genes related to Alzheimer disease (AD) and frontotemporal dementia (FTD).

The AD&FTDMDB website was launched in September 1999 as a locus-specific database (Horaitis et al., Nature Genetics 39: 425, 2007) following the guidelines of the Human Genome Variation Society. In 2007, a link to the UCSC human genome browser was made in collaboration with PhenCode.

The database is updated continuously and contains mutations reported in the literature and at scientific meetings, and unpublished mutations directly submitted to the database. To date, AD&FTDMDB contains mutations in the genes encoding the Amyloid Beta Precursor Protein (APP), Presenilin 1 (PSEN1), Presenilin 2 (PSEN2), chromosome 9 open reading frame 72 (C9orf72), Chromatin Modifying Protein 2B (CHMP2B), fusion (involved in t(12;16) in malignant liposarcoma) (FUS), Granulin (GRN), Microtubule Associated Protein Tau (MAPT), TAR DNA binding protein (TARDBP), TANK-binding kinase 1 (TBK1) and Valosin-containing Protein (VCP) and holds 517 different mutations observed in 1646 patients or families.

Patients and their relatives can find informative web sites in the links section. Also, links for other target groups including caregivers, physicians and researchers are listed.

AD&FTDMDB is curated by Marc Cruts.

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