Term Name: ITM2B-related cerebral amyloid angiopathy 1
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 )

Relationships
is a type of: autosomal dominant disease cerebral amyloid angiopathy