Neuroserpin encephalopathy

Evidence-based neurology checklist on neuroserpin encephalopathy: Genetics This is caused by mutations of the proteinase inhibitor 12 (PI12, SERPINI1) gene This is on chromosome 3 It encodes neuroserpin: this is a tissue-type plasminogen activator inhibitor The transmission is autosomal dominant…

Genetics

  • This is caused by mutations of the proteinase inhibitor 12 (PI12, SERPINI1) gene
  • This is on chromosome 3
  • It encodes neuroserpin: this is a tissue-type plasminogen activator inhibitor
  • The transmission is autosomal dominant
  • The onset is in the fifth decade

Pathology

Clinical features

Hepatic disorders associated with serpinopathies

Brain magnetic resonance imaging (MRI): features

Synonym

References

  1. Hagen MC, Murrell JR, Delisle MB, et al. Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene. Brain Pathol 2011; 21:575-582. 
  2. Yepes M, Lawrence DA. Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system. Thromb Haemost 2004; 91:457-464. 
  3. Davis RL, Holohan PD, Shrimpton AE, et al. Familial encephalopathy with neuroserpin inclusion bodies. Am J Pathol 1999; 155:1901-1913.
  4. Irving JA, Ekeowa UI, Belorgey D, et al. The serpinopathies studying serpin polymerization in vivo. Methods Enzymol 2011; 501:421-466. 
  5. Gourfinkel-An I, Duyckaerts C, Camuzat A, et al. Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene. Neurology 2007; 69:79-83.
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