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Neurological rarities
Neuronal intranuclear inclusion disease
  1. Jia Rui Kwan1,
  2. Wai Lun Moy1,
  3. Kaavya Narasimhalu2,
  4. Kok Pin Yong2
  1. 1 General Medicine, Sengkang General Hospital, Singapore
  2. 2 Neurology, National Neuroscience Institute, Singapore
  1. Correspondence to Dr Wai Lun Moy, General Medicine, Sengkang General Hospital, 544886, Singapore; moy.wai.lun{at}singhealth.com.sg

Abstract

Neuronal intranuclear inclusion disease is a rare genetic condition, previously diagnosed only at postmortem, but its characteristic radiological features now allow its diagnosis in life. The clinical presentation is variable and we hope this case report will raise awareness of this condition.

  • NEUROGENETICS
  • NEURORADIOLOGY
  • COGNITIVE NEUROPSYCHOLOGY
  • GENETICS
  • COGNITION

Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

https://doi.org/10.1136/pn-2022-003582

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    Data availability statement

    All data relevant to the study are included in the article or uploaded as online supplemental information.

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    Footnotes

    • Contributors All authors have contributed to the writing of this manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned: externally reviewed by Jason Warren, London, UK.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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