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