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Clinicopathological features of neuronal intranuclear inclusion disease diagnosed by skin biopsy

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Abstract

Study objectives

Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disorder, with complex and diverse of clinical manifestations characterized by eosinophilic hyaline inclusions in neurons and somatic cells. Due to the improvement in diagnostic methods, NIID is being increasingly diagnosed.

Methods

Herein, we reported three NIID cases, which were diagnosed by skin biopsy and FMR1 gene, after DWI showed the characteristic corticomedullary junction hyperintensity. Then we reviewed all the published cases of NIID in PubMed, which were diagnosed by the same method.

Results

We discussed 15 NIID cases, including three cases diagnosed by us. The average age was 63.4 ± 14.0 years. The average time from onset of symptom to diagnosis was 5.4 ± 7.9 years. Nine cases had dementia or cognitive impairment. Three cases presented with encephalitis. Three cases showed bladder dysfunction and two cases only presented with dizziness and headache. Two cases showed acute neurological deficit mimicking stroke. All cases were diagnosed by skin biopsy, after DWI showed abnormal corticomedullary junction hyperintensity. Ten cases showed inclusions in sweat gland cells, and seven cases in adipocytes, sweat gland cells, and fibroblasts. EMG was performed in five cases, four of whom had abnormal results, showing simultaneous involvement of motor and sensory nerves.

Conclusions

The results indicated that inclusions were more easily detected in sweat gland cells in skin biopsy. The early stage of NIID could only characterized by autonomic nerve function involvement. Combined autonomic nerve dysfunction might be another relatively common manifestation in NIID.

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Funding

No funding was received for conducting this study.

Author information

Author notes

  1. Gao-Jia Zhang and Di Wu have contributed equally to this work.

Authors and Affiliations

  1. Department of Neurology, Affiliated Zhongda Hospital, Research Institution of Neuropsychiatry, School of Medicine, Southeast University, 87 Dingjia Qiao, Nanjing, 210009, Jiangsu, China

    Gao-Jia Zhang, Di Wu, Yi-Xin Zhu & Zhi-Jun Zhang

  2. Electron Microscope Center, Affiliated Zhongda Hospital, School of Medicine, Southeast University, Nanjing, 210009, Jiangsu, China

    Hai-Feng Ni

  3. Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, 518055, Guangdong, China

    Zhi-Jun Zhang

Authors
  1. Gao-Jia Zhang
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  2. Di Wu
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  3. Yi-Xin Zhu
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  4. Hai-Feng Ni
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Contributions

G-JZ, DW, Y-XZ, and H-FN acquired and analyzed the experiment data. G-JZ drafted the manuscript. Z-JZ and DW revised the manuscript and approved the final version to be published.

Corresponding authors

Correspondence to Di Wu or Zhi-Jun Zhang.

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The authors declare no competing interests.

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This study was approved by the ethics committee of Affiliated Zhongda Hospital, Southeast University.

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Zhang, GJ., Wu, D., Zhu, YX. et al. Clinicopathological features of neuronal intranuclear inclusion disease diagnosed by skin biopsy. Neurol Sci 43, 1809–1815 (2022). https://doi.org/10.1007/s10072-021-05526-2

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  • DOI: https://doi.org/10.1007/s10072-021-05526-2

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