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* A recent study found a CGG repeat expansion in the NOTCH2NLC gene linked to NIID, primarily in Japanese patients, and screened a larger European cohort for similar cases.
* The research revealed one European case with the same genetic expansion, suggesting that NIID in Europe may need different diagnostic criteria distinct from East Asian forms of the disease.
Article Abstract
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.
