Journal
HUMAN MUTATION
Volume 33, Issue 9, Pages 1340-1344Publisher
WILEY-BLACKWELL
DOI: 10.1002/humu.22117
Keywords
locus-specific; mutation database; neurodegenerative brain disease; Alzheimer disease; frontotemporal lobar degeneration; Parkinson disease
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Funding
- Interuniversity Attraction Poles Programme IAP of the Belgian Science Policy Office [P6/43]
- Methusalem program of the Flemish Government
- Foundation for Alzheimer Research (SAO/FRMA)
- Queen Elisabeth Medical Foundation (QEMF)
- Research Foundation-Flanders (FWO)
- Agency for Innovation by Science and Technology-Flanders (IWT)
- Special Research Fund of the University of Antwerp, Belgium
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The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease (PD) Mutation Databases make available curated information of sequence variations in genes causing Mendelian forms of the most common neurodegenerative brain disease AD, frontotemporal lobar degeneration (FTLD), and PD. They are established resources for clinical geneticists, neurologists, and researchers in need of comprehensive, referenced genetic, epidemiologic, clinical, neuropathological, and/or cell biological information of specific gene mutations in these diseases. In addition, the aggregate analysis of all information available in the databases provides unique opportunities to extract mutation characteristics and genotypephenotype correlations, which would be otherwise unnoticed and unexplored. Such analyses revealed that 61.4% of mutations are private to one single family, while only 5.7% of mutations occur in 10 or more families. The five mutations with most frequent independent observations occur in 21% of AD, 43% of FTLD, and 48% of PD families recorded in the Mutation Databases, respectively. Although these figures are inevitably biased by a publishing policy favoring novel mutations, they probably also reflect the occurrence of multiple rare and few relatively common mutations in the inherited forms of these diseases. Finally, with the exception of the PD genes PARK2 and PINK1, all other genes are associated with more than one clinical diagnosis or characteristics thereof. Hum Mutat 33:1340-1344, 2012.(c) 2012 Wiley Periodicals, Inc.
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