Living with Familial encephalopathy with neuroserpin inclusion bodies
A rare inherited brain condition with memory and thinking decline and seizures that are hard to control.
Understanding Familial encephalopathy with neuroserpin inclusion bodies
It causes loss of thinking skills (dementia) and seizures. Early signs may be problems with attention and concentration, followed by personality changes and memory trouble. People often need full-time care over time. Many have muscle-jerk seizures (myoclonus) that do not respond well to seizure medicine. Signs can appear at any age, from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dementia (loss of thinking skills)
- Seizures
- Muscle jerks (myoclonus)
- Slurred speech (dysarthria)
- Involuntary movements
- Shrinking of the brain (cerebral atrophy)
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 brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in SERPINI1 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
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy 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 Epilepsy 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 SERPINI1 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: encephalopathy, familial, with collins bodies; familial dementia with neuroserpin inclusion bodies; fenib
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial encephalopathy with neuroserpin inclusion bodies.
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