Clinical analysis of 3 adult-onset patients with genetically diagnosed familial neuronal intranuclear inclusion disease / 中华神经医学杂志

ABSTRACT

Objective:To analyze the clinical characteristics of adult-onset patients with familial neuronal intranuclear inclusion disease (NIID).Methods:The clinical data of 3 patients with familial NIID genetically diagnosed in Department of Neurology, Sixth Affiliated Hospital of Guangzhou Medical University in August 2021, January 2022, and August 2022 were collected. Their clinical manifestations, imaging features, pathological features, Notch2 N-terminal-like C ( NOTCH2NLC) gene mutation characteristics, treatment methods and prognoses were summarized retrospectively. Results:The age of these 3 patients was 73, 67, and 65 years, and the onset age was 68, 64, and 56 years, respectively. The clinical manifestations are highly heterogeneous. In patient 1, the nervous centralis, peripheral nerves and autonomic nerves were involved, appearing dementia, epilepsy, Parkinson's syndrome, muscle weakness and uremia; in patient 2, only the nervous centralis were involved, presenting symptoms of Parkinson's syndrome; in patient 3, peripheral nerves and autonomic nerves were involved, prominently presenting with repeated vomiting. Skull diffusion weighted imaging (DWI) showed asymmetric high signal at the dermo-medullary junction in 3 patients. Acidophilic inclusion bodies in some sudoriferous duct epithelial cells, and vascular endothelial nucleus were found in the skin biopsy of 2 patients. All 3 patients completed NOTCH2NL gene test, and all had GGC repeat amplification mutations with mutation frequency>134. These 3 patients were mainly treated symptomatically, and the disease was still progressed gradually. Conclusion:The clinical manifestations of familial NIID are highly heterogeneous; skull MRI characteristic changes and skin biopsy can help to diagnose NIID and NOTCH2NL gene detection can diagnose NIID.