Abstract
Chen et al. have demonstrated lack of abnormal CGG expansions in the NOTCH2NLC gene among European juvenile and adult patients with neuronal intranuclear inclusion disease (jNIID and aNIID). Genetic heterogeneity of NIID was suggested based on the discrepancy of these results and earlier findings in East Asian patients.
We recently studied NOTCH2NLC CGG repeats in an infantile NIID (iNIID) patient independently of Chen et al. This Caucasian European boy is the first, and thus far only, iNIID patient who has been tested for this molecular pathology.
The number of repeats in this patient corresponded to values found in healthy controls. We believe that these data provide further evidence for genetic heterogeneity of NIID.
It is, however, important to highlight that our results do not, at this point, allow conclusions about genetic causes of NIID among European patients of all age groups or about genetic causes of iNIID.