Neuronal intranuclear inclusion disease with cerebellar white matter tau uptake and incidental meningioma.

This article discusses a case study of a 65-year-old woman who presented with symptoms resembling Parkinson's disease. However, further imaging tests ruled out Parkinson's disease and revealed mild tau protein deposition in the bilateral cerebellar white matter, as well as white matter abnormalities and a meningioma. Genetic testing confirmed a diagnosis of neuronal intranuclear inclusion disease (NIID) with a notable CGG repeat expansion in the NOTCH2NLC gene. This case is significant as it is the first report of tau protein deposits in the cerebellum of a NIID patient and suggests tau as a potential biomarker for NIID. The study was conducted in accordance with ethical guidelines and the patient provided informed consent for publication. [Extracted from the article]