1. Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.
- Author
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Gourfinkel-An I, Duyckaerts C, Camuzat A, Meyrignac C, Sonderegger P, Baulac M, and Brice A
- Subjects
- Adult, Dementia epidemiology, Exons genetics, Female, France ethnology, Frontal Lobe pathology, Genotype, Humans, Inclusion Bodies, Male, Myoclonic Epilepsies, Progressive epidemiology, Pedigree, Phenotype, Switzerland, Neuroserpin, Amino Acid Substitution, Dementia genetics, Frontal Lobe physiopathology, Mutation, Missense, Myoclonic Epilepsies, Progressive genetics, Neuropeptides genetics, Point Mutation, Serpins genetics
- 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.
- Published
- 2007
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