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ITM2B amyloidosis in short
- A rare neurodegenerative disorder marked by progressive dementia and ataxia, along with extensive cerebral amyloid angiopathy and amyloid accumulation within the brain parenchyma.
- Two distinct subtypes have been identified: ABri amyloidosis and ADan amyloidosis.
Synonyms
- ITM2B-related amyloidosis
- ITM2B-related cerebral amyloid angiopathy
- Familial cerebral amyloid angiopathy
How common is this condition?
Prevalence: <1 / 1 000 000
Inheritance
- Autosomal dominant
Age of onset
- Adult
What are the symptoms of ITM2B amyloidosis?
- Cataract
- Cerebral amyloid angiopathy
- Dementia
- Hearing impairment
- Leukoencephalopathy
- Neurofibrillary tangles
- Progressive cerebellar ataxia
- Spastic tetraparesis
