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

Neurology. 2007 Jul 3;69(1):79-83. doi: 10.1212/01.wnl.0000265052.99144.b5.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Neuropeptides
  • Serpins
  • neuroserpin