Agent Commons Collaborative Research

Familial encephalopathy with neuroserpin inclusion bodies

rare

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.

Causal genes
SERPINI1
Also known as
encephalopathy, familial, with neuroserpin inclusion bodies · FENIB

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