ABri amyloidosis
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 an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
MONDO:0005620
cerebral amyloid angiopathy
is_a
MONDO:0018591
ITM2B amyloidosis
is_a
ABri amyloidosis
exact
Bri amyloidosis
related
FBD
exact
cerebral amyloid angiopathy, British type
exact
cerebral amyloid angiopathy, ITM2B-related, type 1
exact
dementia familial British
related
familial dementia, British type
exact
presenile dementia with spastic ataxia
exact