neuronal intranuclear inclusion disease (NIID)

Pathology

• slowly progressive, neurodegenerative disease
• eosinophilic hyaline intranuclear inclusions in the central nervous system & peripheral nervous system, & in the visceral organs Benetics:
  • autosomal dominant
• a CGG repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene is responsible for neuronal intranuclear inclusion disease
  • expansion can be > 100 repeat units in patients
  • in healthy individuals 5-43 repeats

Clinical manifestations

• variable
• include pyramidal symptoms & extrapyramidal symptoms, cerebellar ataxia, cognitive decline & dementia, peripheral neuropathy, & autonomic dysfunction

More general terms

• trinucleotide repeat expansion disease
• neurodegenerative disease

Database

• OMIM: https://mirror.omim.org/entry/603472