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Peripheral nerve excitability abnormalities in Neuronal Intranuclear Inclusion Disease: Assessment with

Yusuke Osaki1, Hiroyuki Nodera2, Ryota Sato3

  • 1Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|December 26, 2024
PubMed
Summary

Neuronal Intranuclear Inclusion Disease (NIID) causes peripheral nerve dysfunction. Studies reveal axonal degeneration and myelin issues, impacting nerve excitability.

Keywords:
Axonal excitabilityMyelin dysfunctionNeurodegenerative disordersNeuronal intranuclear inclusion diseaseThreshold tracking

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Area of Science:

  • Neuroscience
  • Neurology
  • Pathophysiology

Background:

  • Neuronal Intranuclear Inclusion Disease (NIID) is a progressive neurodegenerative disorder impacting both central and peripheral nervous systems.
  • Peripheral nerve involvement in NIID is not fully understood, necessitating further investigation into its pathophysiological mechanisms.

Purpose of the Study:

  • To investigate the peripheral nerve dysfunction in patients diagnosed with Neuronal Intranuclear Inclusion Disease (NIID).
  • To characterize the specific pathophysiological features contributing to nerve abnormalities in NIID.

Main Methods:

  • Clinical data, nerve conduction studies, and motor nerve excitability measurements were analyzed from six NIID patients.
  • Histopathological examination of nerve biopsy from one NIID patient and comparison with 22 age-matched healthy controls.

Main Results:

  • NIID patients demonstrated mild nerve conduction slowing and significant alterations in nerve excitability, including decreased hyperpolarizing threshold electrotonus and increased voltage overshoots.
  • Histopathology confirmed thinly myelinated fibers and axonal degeneration.
  • Mathematical modeling indicated reduced leak conductance as a primary factor in the observed excitability changes.

Conclusions:

  • NIID presents with a combination of axonal degeneration and myelin dysfunction, resulting in characteristic peripheral nerve excitability patterns.
  • Nerve excitability testing, particularly when combined with histopathology, provides valuable insights into the axonal excitability abnormalities present in NIID.