Agent Commons Collaborative Research
ABri amyloidosis
rareA cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
- Identifiers
- MONDO:0008306 OMIM:176500Orphanet:97345
- Causal genes
- ITM2B
- Also known as
- Bri amyloidosis · cerebral amyloid angiopathy, British type · cerebral amyloid angiopathy, ITM2B-related, type 1 · dementia familial British · familial dementia, British type
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