Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy

J. Sone, Nozomi Hishikawa, H. Koike, N. Hattori, M. Hirayama, M. Nagamatsu, M. Yamamoto, F. Tanaka, M. Yoshida, Y. Hashizume, H. Imamura, E. Yamada, G. Sobue

Research output: Contribution to journalArticle

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Abstract

Background: Neuronal intranuclear hyaline inclusion disease (NIHID), a rare neurodegenerative disease in which eosinophilic intranuclear inclusions develop mainly in neurons, has not yet been described to present as hereditary motor-sensory and autonomic neuropathy. Methods: Patients in two NIHID families showing peripheral neuropathy were evaluated clinically, electrophysiologically, and histopathologically. Results: In both families, patients had severe muscle atrophy and weakness in limbs, limb girdle, and face; sensory impairment in the distal limbs; dysphagia, episodic intestinal pseudoobstruction with vomiting attacks; and urinary and fecal incontinence. No patients developed symptoms suggesting CNS involvement. Electrophysiologic study showed the reduced motor and sensory nerve conduction velocities and amplitudes, and also extensive denervation potentials. In sural nerve specimens, numbers of myelinated and unmyelinated fibers were decreased. In two autopsy cases, eosinophilic intranuclear inclusions were widespread, particularly in sympathetic and myenteric ganglion neurons, dorsal root ganglion neurons, and spinal motor neurons. These neurons also were decreased in number. Conclusion: Patients with neuronal intranuclear hyaline inclusion disease (NIHID) can manifest symptoms limited to those of peripheral neuropathy. NIHID therefore is part of the differential diagnosis of hereditary motor-sensory neuropathy associated with autonomic symptoms. Intranuclear hyaline inclusions in Schwann cells and in the myenteric plexus may permit antemortem diagnosis of NIHID.

Original languageEnglish
Pages (from-to)1538-1543
Number of pages6
JournalNeurology
Volume65
Issue number10
DOIs
Publication statusPublished - Nov 2005
Externally publishedYes

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Hyalin
Intranuclear Inclusion Bodies
Hereditary Sensory and Motor Neuropathy
Neurons
Extremities
Peripheral Nervous System Diseases
Hereditary Sensory and Autonomic Neuropathies
Intestinal Pseudo-Obstruction
Myenteric Plexus
Sural Nerve
Fecal Incontinence
Sympathetic Ganglia
Muscular Atrophy
Schwann Cells
Neural Conduction
Muscle Weakness
Urinary Incontinence
Spinal Ganglia
Motor Neurons
Denervation

ASJC Scopus subject areas

  • Neuroscience(all)

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Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy. / Sone, J.; Hishikawa, Nozomi; Koike, H.; Hattori, N.; Hirayama, M.; Nagamatsu, M.; Yamamoto, M.; Tanaka, F.; Yoshida, M.; Hashizume, Y.; Imamura, H.; Yamada, E.; Sobue, G.

In: Neurology, Vol. 65, No. 10, 11.2005, p. 1538-1543.

Research output: Contribution to journalArticle

Sone, J, Hishikawa, N, Koike, H, Hattori, N, Hirayama, M, Nagamatsu, M, Yamamoto, M, Tanaka, F, Yoshida, M, Hashizume, Y, Imamura, H, Yamada, E & Sobue, G 2005, 'Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy', Neurology, vol. 65, no. 10, pp. 1538-1543. https://doi.org/10.1212/01.wnl.0000184490.22527.90
Sone, J. ; Hishikawa, Nozomi ; Koike, H. ; Hattori, N. ; Hirayama, M. ; Nagamatsu, M. ; Yamamoto, M. ; Tanaka, F. ; Yoshida, M. ; Hashizume, Y. ; Imamura, H. ; Yamada, E. ; Sobue, G. / Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathy. In: Neurology. 2005 ; Vol. 65, No. 10. pp. 1538-1543.
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