Neuronal intranuclear inclusion disease is genetically heterogeneous

Genomics England Research Consortium, Genomics England Research Consortium

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


Neuronal intranuclear inclusion disease (NIID) is a clinically heterogeneous neurodegenerative condition characterized by pathological intranuclear eosinophilic inclusions. A CGG repeat expansion in NOTCH2NLC was recently identified to be associated with NIID in patients of Japanese descent. We screened pathologically confirmed European NIID, cases of neurodegenerative disease with intranuclear inclusions and applied in silico-based screening using whole-genome sequencing data from 20 536 participants in the 100 000 Genomes Project. We identified a single European case harbouring the pathogenic repeat expansion with a distinct haplotype structure. Thus, we propose new diagnostic criteria as European NIID represents a distinct disease entity from East Asian cases.

Original languageEnglish (US)
Pages (from-to)1716-1725
Number of pages10
JournalAnnals of Clinical and Translational Neurology
Issue number9
StatePublished - Sep 1 2020

ASJC Scopus subject areas

  • General Neuroscience
  • Clinical Neurology


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