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Insensitive Nuclei Enhanced by Polarization Transfer (INEPT) is an advanced Nuclear Magnetic Resonance (NMR) technique specifically designed to detect and enhance the signals of low-abundance nuclei, such as carbon-13 and nitrogen-15, in small molecules. The fundamental principle behind INEPT is the transfer of polarization from a more abundant and highly polarizable nucleus, typically hydrogen-1, to the low-abundance nucleus of interest. This process effectively boosts the NMR signal of the...
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Updated: Aug 9, 2025

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Neuronal intranuclear inclusion disease.

Jia Rui Kwan1, Wai Lun Moy2, Kaavya Narasimhalu3

  • 1General Medicine, Sengkang General Hospital, Singapore.

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Summary

Neuronal intranuclear inclusion disease (NIID) is a rare genetic disorder. Characteristic radiological findings now enable in-life diagnosis, previously only possible postmortem.

Keywords:
COGNITIONCOGNITIVE NEUROPSYCHOLOGYGENETICSNEUROGENETICSNEURORADIOLOGY

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Area of Science:

  • Neurology
  • Genetics
  • Radiology

Background:

  • Neuronal intranuclear inclusion disease (NIID) is a rare, progressive, neurodegenerative disorder.
  • Historically, definitive diagnosis of NIID was limited to postmortem examination.
  • The genetic basis and pathological hallmarks of NIID are increasingly understood.

Observation:

  • This case report highlights the diagnostic utility of neuroimaging in NIID.
  • Characteristic radiological features, such as white matter abnormalities and cerebellar atrophy, are key diagnostic indicators.
  • The variable clinical presentation of NIID can pose diagnostic challenges.

Findings:

  • Advanced neuroimaging techniques allow for the in-life diagnosis of NIID.
  • Radiological findings correlate with the underlying neuropathology of intranuclear inclusions.
  • Early diagnosis through imaging facilitates timely management and genetic counseling.

Implications:

  • Increased awareness of NIID's radiological features can lead to earlier diagnosis and intervention.
  • This case underscores the importance of integrating clinical, radiological, and genetic data for diagnosing rare neurological disorders.
  • Further research into NIID pathogenesis and treatment is warranted.