Overview
ITM2B amyloidosis is a rare inherited brain disease caused by changes in the ITM2B gene. This gene normally helps make a protein that keeps the brain healthy. When the gene has a mutation, an abnormal protein builds up in and around blood vessels in the brain, forming clumps called amyloid deposits. Over time, these deposits damage brain tissue and blood vessels, leading to serious neurological problems. This condition is also known by several other names, including Familial British Dementia (FBD) and Familial Danish Dementia (FDD), depending on the specific mutation involved. Both forms were first described in large families from Britain and Denmark, respectively. The disease mainly affects the brain and nervous system. People with ITM2B amyloidosis typically develop a combination of memory loss and dementia, problems with balance and walking, and in some cases, cataracts or hearing loss. Symptoms usually begin in adulthood, often in a person's 40s or 50s, and gradually get worse over time. There is currently no cure for ITM2B amyloidosis. Treatment focuses on managing symptoms and supporting quality of life. This may include medications to help with memory or mood, physical therapy to assist with movement, and regular monitoring by a team of specialists. Research into this condition is ongoing, but effective disease-modifying therapies are not yet available.
Also known as:
Key symptoms:
Progressive memory loss and dementiaDifficulty with balance and coordinationProblems walking steadilyWeakness or stiffness in the limbsPersonality and behavior changesClouding of the eye lens (cataracts) — more common in Danish formHearing loss — more common in Danish formStroke-like episodesSeizures in some casesGradual loss of independence over time
Clinical phenotype terms (8)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
2 eventsFondazione I.R.C.C.S. Istituto Neurologico Carlo Besta — NA
University Hospital, Rouen — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for ITM2B amyloidosis.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to ITM2B amyloidosis.
Community
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Start the conversation →Latest news about ITM2B amyloidosis
1 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific mutation do I have in the ITM2B gene, and what does that mean for my prognosis?,Should my children and siblings be tested for this mutation, and at what age?,What symptoms should prompt me to go to the emergency room?,Are there any clinical trials or research studies I could participate in?,What specialists should be part of my care team, and how often should I see them?,What can I do now to maintain my quality of life and slow the impact on my daily functioning?,Are there any support groups or patient organizations for people with this condition or similar hereditary dementias?
Common questions about ITM2B amyloidosis
What is ITM2B amyloidosis?
ITM2B amyloidosis is a rare inherited brain disease caused by changes in the ITM2B gene. This gene normally helps make a protein that keeps the brain healthy. When the gene has a mutation, an abnormal protein builds up in and around blood vessels in the brain, forming clumps called amyloid deposits. Over time, these deposits damage brain tissue and blood vessels, leading to serious neurological problems. This condition is also known by several other names, including Familial British Dementia (FBD) and Familial Danish Dementia (FDD), depending on the specific mutation involved. Both forms were
How is ITM2B amyloidosis inherited?
ITM2B amyloidosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does ITM2B amyloidosis typically begin?
Typical onset of ITM2B amyloidosis is adult. Age of onset can vary across affected individuals.
Are there clinical trials for ITM2B amyloidosis?
Yes — 1 recruiting clinical trial is currently listed for ITM2B amyloidosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat ITM2B amyloidosis?
2 specialists and care centers treating ITM2B amyloidosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.