Overview
Progressive myoclonic epilepsy with neuroserpin inclusion bodies, also known as familial encephalopathy with neuroserpin inclusion bodies (FENIB), is a rare inherited brain disease caused by a faulty gene called SERPINI1. This gene normally makes a protein called neuroserpin, which helps protect nerve cells in the brain. When the gene has a mutation, the neuroserpin protein folds into the wrong shape and clumps together inside brain cells, forming deposits called Collins bodies or neuroserpin inclusion bodies. These clumps slowly damage and destroy nerve cells over time. The disease causes a combination of seizures, sudden jerking movements (called myoclonus), and a gradual decline in thinking and memory. Symptoms usually begin in adulthood, though the age of onset can vary. Over time, people may also develop problems with movement, coordination, and daily functioning. The disease gets worse slowly but steadily. There is currently no cure for FENIB. Treatment focuses on managing seizures and myoclonus with anti-seizure medications, and supporting quality of life through rehabilitation therapies. Because this condition is so rare, treatment is largely based on general epilepsy management principles, and care from a team of specialists is important.
Key symptoms:
Sudden, brief jerking movements of the limbs or body (myoclonus)Seizures of various typesGradual decline in memory and thinking ability (dementia)Difficulty with coordination and balanceSlowed or slurred speechPersonality or behavioral changesDifficulty walking steadilyIncreasing difficulty with daily tasks over timeTremor or shaking
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)
Treatments
No FDA-approved treatments are currently listed for Progressive myoclonic epilepsy with neuroserpin inclusion bodies.
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Specialists
View all specialists →No specialists are currently listed for Progressive myoclonic epilepsy with neuroserpin inclusion bodies.
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 Progressive myoclonic epilepsy with neuroserpin inclusion bodies.
Community
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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 anti-seizure medications are most appropriate for my type of seizures and myoclonus, and which ones should I avoid?,Should my family members be tested for the SERPINI1 mutation, and what does a positive result mean for them?,Are there any clinical trials or research studies I could participate in?,How quickly do you expect my symptoms to progress, and what signs should prompt me to contact you urgently?,What therapies — such as physiotherapy or speech therapy — would help me maintain my independence for longer?,Are there any specialists or centers with specific experience in FENIB or related conditions that you would recommend?,What support services are available for me and my family as the disease progresses?
Common questions about Progressive myoclonic epilepsy with neuroserpin inclusion bodies
What is Progressive myoclonic epilepsy with neuroserpin inclusion bodies?
Progressive myoclonic epilepsy with neuroserpin inclusion bodies, also known as familial encephalopathy with neuroserpin inclusion bodies (FENIB), is a rare inherited brain disease caused by a faulty gene called SERPINI1. This gene normally makes a protein called neuroserpin, which helps protect nerve cells in the brain. When the gene has a mutation, the neuroserpin protein folds into the wrong shape and clumps together inside brain cells, forming deposits called Collins bodies or neuroserpin inclusion bodies. These clumps slowly damage and destroy nerve cells over time. The disease causes a
How is Progressive myoclonic epilepsy with neuroserpin inclusion bodies inherited?
Progressive myoclonic epilepsy 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 myoclonic epilepsy with neuroserpin inclusion bodies typically begin?
Typical onset of Progressive myoclonic epilepsy with neuroserpin inclusion bodies is adult. Age of onset can vary across affected individuals.