Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.
case_series · Level IV
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Abstract
Familial encephalopathy with neuroserpin inclusion bodies is a recently described neurodegenerative disease that is responsible for progressive myoclonic epilepsy or presenile dementia. In a French family with the S52R mutation of the neuroserpin gene, progressive myoclonic epilepsy was associated with a frontal syndrome. The typical cerebral inclusions (Collins bodies) were abundant in the frontal cortex and in the head of the caudate nucleus but spared the cerebellum.
Medical subject headings
- Amino Acid Substitution
- Dementia
- Frontal Lobe
- Mutation, Missense
- Myoclonic Epilepsies, Progressive
- Neuropeptides
- Point Mutation
- Serpins