"Neuronal intranuclear inclusion disease is caused by a GGC repeat expansion in the 5’UTR region of the NOTCH2NLC gene, with pathogenic expansion defined as ≥60 repeats (normal ≤40 repeats) 10. This mutation may be inherited in an autosomal dominant pattern."
"Neuronal intranuclear inclusion disease is caused by a GGC repeat expansion in the 5’UTR region of the NOTCH2NLC gene, with pathogenic expansion defined as ≥60 repeats (normal ≤40 repeats) 10. This mutation may be inherited in an autosomal dominant pattern."
"fragile X-associated tremor/ataxia syndrome (FXTAS)"
"Less common radiological features include T2/FLAIR hyperintensities elsewhere, including the corpus callosum (~85%), cerebellar vermis and paravermian regions (~55%), brainstem (~40%), thalami (~30%), middle cerebellar peduncles (~25%), and focal cortical lesions (~10%) 4,6-9. The focal cortical lesions were more commonly seen in the temporoparietal and occipital lobes, may have gadolinium enhancement and focal cortical oedema with restricted diffusion on DWI, and are more likely to be seen in a subset of patients presenting clinically with encephalopathy-like episodes 6,8,9."