Neuronal intranuclear inclusion disease (NIID): pathology

Evidence-based neurology checklist on neuronal intranuclear inclusion disease (niid): pathology: Genetics This is caused by mutations of the NOTCH2NLC (notch 2 N-terminal like C) gene It is a GGC trinucleotide repeat expansion mutation The median expansion size is 115: the range is 70-525 Larger…

Genetics

  • This is caused by mutations of the NOTCH2NLC (notch 2 N-terminal like C) gene
  • It is a GGC trinucleotide repeat expansion mutation
  • The median expansion size is 115: the range is 70-525
  • Larger repeat sizes correlate with younger disease onset age
  • The pathology shows ubiquitin-positive eosinophilic hyaline intranuclear inclusions

NIID related disorders (NIIDRD)

Clinical dominance types

References

  1. Sone J, Mori K, Inagaki T, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 2016; 139:3170-3186.
  2. Tai H, Wang A, Zhang Yet al. Clinical features and classification of neuronal intranuclear inclusion disease. Neurol Genet 2023; 9:e200057.
  3. Furuta M, Sato M, Kasahara H, et al. Clinical, radiological, and molecular analyses of neuronal intranuclear inclusion disease with polyglycine inclusions. J Neurol Sci 2023; 448:120618.
  4. Deng J, Gu M, Miao Y, et al. Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet 2019; 56:758-764.
  5. Sone J, Mitsuhashi S, Fujita A, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet 2019; 51:1215-1221.
  6. And 3 more. Subscribe to see the full list

Related checklists

Loading...