familial Danish dementia (cerebral amyloid angiopathy ITM2B-related type 2, CAA-ITM2B2, heredopathia ophthalmo-oto-encephalica)
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Epidemiology
- autosomal dominant in a Danish kindred.
- age of onset in fourth to fifth decade.
Microscopic pathology
- similar to familial British dementia
- severe & widespread amyloid angiopathy in cerebrum, choroid plexus, cerebellum, spinal cord & retina with perivascular plaque formation
- periventricular white matter changes
- neuritic & non-neuritic amyloid plaques
- neurofibrillary degeneration in limbic structures
Genetics
- 10 nucleotide duplication between codons 265 & 266 just before normal stop-codon 267 of the ITM2B gene results in a 277 aa residue protein (normal 266 aa), of which release of the 34 C-terminal amino acids generates amyloid - designated ADan
Clinical manifestations
More general terms
- dementia; Alzheimer's disease & related dementias (ADRD)
- neurodegenerative disease
- cerebral amyloid angiopathy (CAA)
- genetic disease of the central nervous system
References
- ↑ Vidal R et al Sequence, genomic structure and tissue expression of Human BRI3, a member of the BRI gene family. Gene. 2001 Mar 21;266(1-2):95-102. PMID: https://www.ncbi.nlm.nih.gov/pubmed/11290423