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Human Disease

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
Ontology
Human Disease   ( DOID:0070029 )
Relationships
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Genes Involved
Zebrafish Models