Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review

Neuronal inclusions that are associated with encephalopathies include neurofibrillary tangles in Alzheimer’s disease, Lewy bodies in Parkinson’s disease, inclusions containing TDP-43 in frontotemporal dementia, Lafora bodies in Lafora disease, and neuroserpin bodies in neuroserpinosis. Among these diseases, neuroserpinosis is an extremely rare disease that is caused by pathogenic variants of the SERPINI1 gene and is associated with variable phenotypes, including child-onset progressive myoclonus epilepsies (PME) and pre-senile dementia [1], which are collectively referred to as familial encephalopathy with neuroserpin inclusion bodies (FENIB) [1].