Living with ABri amyloidosis
A rare inherited condition that affects the brain in adults, with slowly worsening thinking and stiff muscles.
Understanding ABri amyloidosis
It usually starts between the 4th and 6th decade of life. It brings progressive mental decline, muscle stiffness (spasticity), and muscular rigidity. People do not have tremors, spontaneous movements, or sensory changes. GARD lists onset as adult.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Progressive mental decline
- Muscle stiffness (spasticity)
- Muscular rigidity
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ITM2B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Amyloidosis Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Amyloidosis Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Amyloidosis Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ITM2B gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: cerebral amyloid angiopathy, british type; cerebral amyloid angiopathy, itm2b-related, 1; cerebral amyloid angiopathy, itm2b-related, type 1; familial british dementia; familial british dementia with amyloid angiopathy; familial dementia british type
Patient organizations
- Amyloidosis FoundationABri amyloidosis · United States
You are more than your diagnosis
Perspectives from people navigating life with ABri amyloidosis.
Explore research for ABri amyloidosis
Explore actively recruiting ABri amyloidosis studies with HealthSpark.
Find actively recruiting studies for ABri amyloidosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting ABri amyloidosis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for ABri amyloidosis
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your ABri amyloidosis experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.