Abstract
AbstractNeuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease in which intranuclear inclusions are widely observed in the central and peripheral nervous systems and cells of general organs. For many years, it was diagnosed at autopsy. But in 2011, it became possible to diagnose NIID by skin biopsy, and in 2019, the expansion of the NOTCH2NLC GGC repeat was identified as the cause of NIID. Many NIID cases are now diagnosed antemortem by skin biopsy and genetic tests, and the clinical features of NIID are analyzed and reported. In addition, the causes of many repeat diseases have been identified. For example, Fragile‐X‐associated tremor/ataxia syndrome and oculopharyngodistal myopathy have been reported to show clinical and laboratory findings similar to NIID during their course. It is desirable to analyze the expansion of the NOTCH2NLC GGC repeat in order to distinguish it from other diseases. It is necessary to reorganize the disease concept of each disease through genetical assessment.
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