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ITM2B-related cerebral amyloid angiopathy 1
Summary
- Synonym
-
- Cerebral Amyloid Angiopathy, British Type
- FBD
- Familial British Dementia
- Presenile Dementia with Spastic Ataxia
- 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 an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.
- Super Class
- autosomal dominant disease cerebral amyloid angiopathy
External Links
- Disease Ontology
- DOID:0070029
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
