Progressive dementia with neuroserpin inclusion bodies

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ORPHA:530303OMIM:604218G31.8
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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Progressive dementia with neuroserpin inclusion bodies, also known as familial encephalopathy with neuroserpin inclusion bodies (FENIB), is a very rare inherited brain disease. It is caused by a change (mutation) in the SERPINI1 gene, which provides instructions for making a protein called neuroserpin. When this protein is abnormal, it clumps together and forms deposits inside brain cells, especially in areas of the brain responsible for thinking, memory, and behavior. Over time, these clumps damage and destroy brain cells, leading to a slow but steady decline in mental function. The main symptoms include progressive memory loss, personality changes, difficulty thinking clearly, and seizures. The disease tends to get worse over time, eventually affecting a person's ability to carry out everyday tasks and live independently. Symptoms usually begin in adulthood, though the age of onset can vary depending on the specific gene mutation involved. There is currently no cure for FENIB. Treatment focuses on managing symptoms, such as using anti-seizure medications to control epilepsy and supportive care to maintain quality of life. Research into this condition is ongoing, but effective disease-modifying therapies are not yet available.

Also known as:

Key symptoms:

Progressive memory lossDifficulty thinking and concentratingPersonality and behavior changesSeizures (epilepsy)Confusion and disorientationDifficulty with language and finding wordsLoss of ability to perform daily tasksMood changes including depression or anxietyGradual loss of independence

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Dec 2021

Tarpeyo: FDA approved

to reduce proteinuria in adults with primary immunoglobulin A nephropathy (IgAN) at risk of rapid disease progression, generally a urine protein-to-creatinine ratio (UPCR) > or = 1.5 g/g

FDAcompleted

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

Tarpeyo

budesonide delayed-release· Calliditas TherapeuticsOrphan Drug

to reduce proteinuria in adults with primary immunoglobulin A nephropathy (IgAN) at risk of rapid disease progression, generally a urine protein-to-creatinine ratio (UPCR) > or = 1.5 g/g

No actively recruiting trials found for Progressive dementia with neuroserpin inclusion bodies at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Progressive dementia with neuroserpin inclusion bodies community →

No specialists are currently listed for Progressive dementia with neuroserpin inclusion bodies.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Financial Resources

1 resources
Tarpeyo(budesonide delayed-release)Calliditas Therapeutics

Travel Grants

No travel grants are currently matched to Progressive dementia with neuroserpin inclusion bodies.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Progressive dementia with neuroserpin inclusion bodies

1 articles
NewsRSSApr 22, 2026
Amprion working to expand access globally to alpha-synuclein protein test
A company called Amprion is partnering with a university in Australia to make their alpha-synuclein test more available around the world. This test detects abno
See all news about Progressive dementia with neuroserpin inclusion bodies

Caregiver 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.Which specific mutation in the SERPINI1 gene has been found, and what does that mean for how quickly the disease might progress?,Should other family members be tested for this gene mutation, and how should we approach that conversation?,What anti-seizure medications are most appropriate, and what are the signs that they are not working well enough?,Are there any clinical trials or research studies we should consider enrolling in?,What specialists should be part of our care team, and how often should we have follow-up appointments?,What safety measures should we put in place at home as the disease progresses?,What support services are available for both the patient and family caregivers?

Common questions about Progressive dementia with neuroserpin inclusion bodies

What is Progressive dementia with neuroserpin inclusion bodies?

Progressive dementia with neuroserpin inclusion bodies, also known as familial encephalopathy with neuroserpin inclusion bodies (FENIB), is a very rare inherited brain disease. It is caused by a change (mutation) in the SERPINI1 gene, which provides instructions for making a protein called neuroserpin. When this protein is abnormal, it clumps together and forms deposits inside brain cells, especially in areas of the brain responsible for thinking, memory, and behavior. Over time, these clumps damage and destroy brain cells, leading to a slow but steady decline in mental function. The main sym

How is Progressive dementia with neuroserpin inclusion bodies inherited?

Progressive dementia with neuroserpin inclusion bodies follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Progressive dementia with neuroserpin inclusion bodies typically begin?

Typical onset of Progressive dementia with neuroserpin inclusion bodies is adult. Age of onset can vary across affected individuals.