Conditions / Genetic

ITM2B-related cerebral amyloid angiopathy 1

info ยท Genetic

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

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.

Signs and symptoms

  • Hypertonia
  • Progressive neurologic deterioration
  • Cerebral amyloid angiopathy
  • Dementia
  • Rigidity
  • Spasticity
  • Tremor

Also known as: Cerebral Amyloid Angiopathy, British Type; FBD; Familial British Dementia; Presenile Dementia with Spastic Ataxia