Conditions / Nervous system
familial encephalopathy with neuroserpin inclusion bodies
info · Nervous system
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 p
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.
Signs and symptoms
- Eosinophilic neuronal inclusion bodies
- Encephalopathy
- Cerebral atrophy
- Diplopia
- Seizure
- Dysarthria
- Gliosis
- Abnormality of extrapyramidal motor function
- Nystagmus
- Dementia
Also known as: FENIB