familial encephalopathy with neuroserpin inclusion bodies

Term ID

DOID:0050831

Synonyms

• FENIB

Definition

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. (3)

References

• GARD:10037
• MESH:C536841
• MIM:604218

Ontology

Human Disease   ( DOID:0050831 )