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familial encephalopathy with neuroserpin inclusion bodies (FENIB) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial encephalopathy with neuroserpin inclusion bodies

MONDO:0011412

Also known as:FENIBencephalopathy, familial, with Collins bodiesencephalopathy, familial, with neuroserpin inclusion bodies

Overview

A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has material basis in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.

GeneticsAutosomal dominant · SERPINI1 (chr 3)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Eosinophilic neuronal inclusion bodies. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Encephalopathy, Brain shrinkage (cerebral atrophy), Seizure
Eyes

Genetic Landscape

SERPINI1 function has not been fully characterized.

Familial encephalopathy with neuroserpin inclusion bodies is associated with mutations in the SERPINI1 gene on chromosome 3.

Diagnosis

Genetic testing for SERPINI1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for familial encephalopathy with neuroserpin inclusion bodies.

5 publications have been identified in PubMed for familial encephalopathy with neuroserpin inclusion bodies. Research spans Basic Science / Preclinical (40%), Gene Therapy / Novel Therapeutics (40%), and Case Report / Case Series (20%).

Recent Publications

Ahmad T (2026). [PMID: 41866009](https://pubmed.ncbi.nlm.nih.gov/41866009/). *Biochimica et biophysica acta. Proteins and proteomics*. [Basic Science / Preclinical]
Konishi CT (2025). [PMID: 39877004](https://pubmed.ncbi.nlm.nih.gov/39877004/). *Molecular therapy. Nucleic acids*. [Gene Therapy / Novel Therapeutics]
Giustini A (2025). [PMID: 39749681](https://pubmed.ncbi.nlm.nih.gov/39749681/). *Drug development research*. [Gene Therapy / Novel Therapeutics]
Sahoo S (2024). [PMID: 39257502](https://pubmed.ncbi.nlm.nih.gov/39257502/). *Indian journal of psychiatry*. [Case Report / Case Series]
Konishi CT (2024). [PMID: 38293034](https://pubmed.ncbi.nlm.nih.gov/38293034/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604218

Orphanet

European rare disease database

Orphanet:85110

GARD

Genetic and Rare Diseases Info Center

GARD:10037

Questions for Your Care Team

→Should I pursue genetic testing for SERPINI1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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familial encephalopathy with neuroserpin inclusion bodies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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