Term Name: | ITM2B-related cerebral amyloid angiopathy 1 |
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Synonyms: | Cerebral Amyloid Angiopathy, British Type, Familial British Dementia, FBD, 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 heterozygous mutation in the ITM2B gene on chromosome 13q14. |
Ontology: | Human Disease [DOID:0070029] ( DOID:0070029 ) |