| Metadata | |
|---|---|
| ID | DOID:0070029 |
| Name | ITM2B-related cerebral amyloid angiopathy 1 |
| Definition | A 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 heterozygous mutation in the ITM2B gene on chromosome 13q14. https://www.ncbi.nlm.nih.gov/pubmed/10391242, https://www.ncbi.nlm.nih.gov/pubmed/7086452 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Cerebral Amyloid Angiopathy, British Type [EXACT] Familial British Dementia [EXACT] FBD [EXACT] Presenile Dementia with Spastic Ataxia [EXACT] |
| Parent Relationships |