ITM2B-related cerebral amyloid angiopathy 1

Term ID

DOID:0070029

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. (2)

References

• GARD:8344
• MIM:176500

Ontology

Human Disease   ( DOID:0070029 )