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Related Experiment Video

Updated: Mar 8, 2026

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[Neuronal Intranuclear Inclusion Disease].

Jun Sone1, Gen Sobue

  • 1Department of Neurology, Nagoya University Graduate School of Medicine.

Brain and Nerve = Shinkei Kenkyu No Shinpo
|January 28, 2017
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Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder. A new diagnostic flowchart aids in identifying adult-onset NIID, suggesting it may be underdiagnosed.

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Area of Science:

  • Neurology
  • Neurodegenerative Diseases
  • Diagnostic Medicine

Background:

  • Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder.
  • Characterized by intranuclear inclusions in the nervous system and organs.
  • Recent diagnostic advancements, like skin biopsy, have increased reported cases.

Purpose of the Study:

  • To propose a diagnostic flowchart for adult-onset NIID.
  • To highlight the potential underdiagnosis of NIID.
  • To aid in the differential diagnosis of leukoencephalopathy and neuropathy.

Main Methods:

  • Review of clinical presentations of sporadic and familial NIID.
  • Classification of familial NIID into 'limb weakness' and 'dementia dominant' groups based on age of onset.
  • Development of a diagnostic flowchart for adult-onset NIID.

Main Results:

  • Sporadic NIID often presents with dementia, elevated CSF protein, leukoencephalopathy, and specific MRI findings.
  • Familial NIID <40 years typically shows muscle weakness (limb weakness group).
  • Familial NIID >40 years primarily presents with dementia (dementia dominant group).

Conclusions:

  • Adult-onset NIID may be more prevalent than previously recognized.
  • NIID should be considered in the differential diagnosis of leukoencephalopathy and neuropathy.
  • The proposed flowchart can assist clinicians in diagnosing adult-onset NIID.