Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.

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.

• Authors: I Gourfinkel-An, C Duyckaerts, A Camuzat, C Meyrignac, P Sonderegger, M Baulac, A Brice
• Journal: Neurology (Neurology) Vol. 69 Issue 1 Pg. 79-83 (Jul 03 2007) ISSN: 1526-632X [Electronic] United States
• PMID: 17606885 (Publication Type: Case Reports, Journal Article)

Chemical References

• Neuropeptides
• Serpins
• neuroserpin

Topics

• Adult
• Amino Acid Substitution
• Dementia (epidemiology, genetics)
• Exons (genetics)
• Female
• France (ethnology)
• Frontal Lobe (pathology, physiopathology)
• Genotype
• Humans
• Inclusion Bodies
• Male
• Mutation, Missense
• Myoclonic Epilepsies, Progressive (epidemiology, genetics)
• Neuropeptides (genetics)
• Pedigree
• Phenotype
• Point Mutation
• Serpins (genetics)
• Switzerland