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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-05-2012
Symbol FDD
Location 13q14
Name dementia, familial Danish
Other name(s) heredopathia ophthalmio-oto-encephalica
Corresponding gene ITM2B
Other symbol(s) HOOE
Main clinical features
  • paranoid psychosis or increasing dementia occurred in late life; posterior polar cataracts appeared between ages 20 and 30, and deafness which appeared about the same time became severe by age 45
  • characterized by cataract deafness, progressive ataxia and dementia, neuropathology widespread cerebral amyloid angiopathy, hippocampal plaques, neurofibrillary tangles
  • death in fifth to sixth decade of life
  • Genetic determination autosomal dominant
    Function/system disorder ear
    Type disease
    Gene product
    Name ITM2B mutations (decamer duplication in the 3' region originating an amyloid peptide)
    Gene mutationChromosome rearrangementEffectComments
    unknown     decamer duplication in the 3' region originating an amyloid peptide