Neuronal intranuclear inclusion disease (NIID): investigations

Evidence-based neurology checklist on neuronal intranuclear inclusion disease (niid): investigations: Magnetic resonance imaging (MRI) brain: features Leukoencephalopathy Cerebral atrophy Cerebellar atrophy Paravermal medial cerebellar hemisphere high signal Middle cerebellar peduncle high signal…

Magnetic resonance imaging (MRI) brain: features

  • Leukoencephalopathy
  • Cerebral atrophy
  • Cerebellar atrophy
  • Paravermal medial cerebellar hemisphere high signal
  • Middle cerebellar peduncle high signal
  • Cortico-medullary junction high signal
  • Focal cortical lesions: localised cortical oedema or atrophy

Neurophysiological tests

Tissue biopsy

Treatment

References

  1. Nakamura M, Ueki S, Kubo M, et al. Two cases of sporadic adult-onset neuronal intranuclear inclusion disease preceded by urinary disturbance for many years. J Neurol Sci 2018; 392:89-93.
  2. Sugiyama A, Sato N, Kimura Y, et al. MR imaging features of the cerebellum in adult-onset neuronal intranuclear inclusion disease: 8 cases. Am J Neuroradiol 2017; 38:2100-2104.
  3. Han X, Han M, Liu N, et al. Adult-onset neuronal intranuclear inclusion disease presenting with typical MRI changes. Brain Behav 2019; 9:e01477.
  4. Xiao F, Tian X, Wang XF. Cerebral atrophy and leukoencephalopathy in a young man presenting with encephalitic episodes. JAMA Neurol 2018; 75:1563-1564.
  5. Sone J, Mori K, Inagaki T, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 2016; 139:3170-3186.
  6. And 3 more. Subscribe to see the full list

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