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논문KCI 등재

말초신경전도 이상이 동반된 신경세포핵내봉입체병 증례

Neuronal Intranuclear Inclusion Disease with Abnormal Peripheral Nerve Conduction

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키워드

주제분류신경과학

초록

A 70-year-old female presented with progressive gait disturbance. Neurologic examination revealed sensory impairment, hyporeflexia, and sensory ataxia. Nerve conduction study demonstrated mildly decreased velocity in motor nerves. Brain magnetic resonance imaging showed high signal intensities in the corticomedullary junction on diffusion weighted imaging. Neurocognitive function test implied mild cognitive impairment. Based on eosinophilic intranuclear inclusions in pathology, neuronal intranuclear inclusion disease was confirmed. Neuronal intranuclear inclusion needs to be considered when abnormal nerve conduction studies are consistent with abnormal brain imaging findings.

Abstract

A 70-year-old female presented with progressive gait disturbance. Neurologic examination revealed sensory impairment, hyporeflexia, and sensory ataxia. Nerve conduction study demonstrated mildly decreased velocity in motor nerves. Brain magnetic resonance imaging showed high signal intensities in the corticomedullary junction on diffusion weighted imaging. Neurocognitive function test implied mild cognitive impairment. Based on eosinophilic intranuclear inclusions in pathology, neuronal intranuclear inclusion disease was confirmed. Neuronal intranuclear inclusion needs to be considered when abnormal nerve conduction studies are consistent with abnormal brain imaging findings.

참고문헌 (7)

  1. Sone J, "Clinicopathological features of adult-onset neuronal intranuclear inclusion disease", Brain, 139, pp.3170~3186 (2016)
  2. Lai SC, "Neuronal intranuclear inclusion disease : two cases of dopa-responsive juvenile parkinsonism with drug-induced dyskinesia", Mov Disord, 25, pp.1274~1279 (2010)
  3. Sone J, "Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease", Nat Genet, 51, pp.1215~1221 (2019)
  4. Huang Y, "Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks : a case report", BMC Neurol, 21, pp.142~ (2021)
  5. Hirose B, "Sporadic adult-onset neuronal intranuclear inclusion disease with abnormal electroretinogram, nerve conduction studies and somatosensory evoked potential", Rinsho Shinkeigaku, 58, pp.407~410 (2018)
  6. 전민영, "Adult-Onset Neuronal Intranuclear Inclusion Disease: First Korean Case Confirmed by Skin Biopsy", Journal of Clinical Neurology, 16(4), pp.720~722 (2020), 대한신경과학회[DOI]
  7. Foster AD, "The role of sequestosome 1", p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis, 2020, pp.15, 2186~2194

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