Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)

Abstract

The molecular aetiology of NIID had remained unresolved for decades since its first pathological characterisation until recently, when a GGC repeat expansion in the 5’UTR of the human-specific NOTCH2NLC gene mainly associated with disease in the East Asian population was discovered [3, 4]. [...]Park and colleagues rightfully assessed NII composition in the post-mortem brain of an individual of European (Finnish) ancestry with juvenile-onset NIID, not associated with the NOTCH2NLC repeat expansion [7, 8], to gain further insight into the currently unknown molecular mechanism of disease within European individuals. [...]the expression of HRNR is not enriched within the central nervous system with low human brain region-specific expression, as exemplified in the Genotype-Tissue Expression (GTEx) project [10].