ITM2B-related cerebral amyloid angiopathy 2

info · Genetic

A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.

Signs and symptoms

Psychosis
Hearing impairment
Cerebral amyloid angiopathy
Dementia
Ataxia
Neurofibrillary tangles
Posterior polar cataract
Intention tremor
Spasticity

Also known as: Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; FDD; Familial Danish Dementia; HOOE; Heredopathia Ophthalmootoencephalica