Neuronal intranuclear inclusion disease (NIID): clinical features

Evidence-based neurology checklist on neuronal intranuclear inclusion disease (niid): clinical features: Onset types Adult onset: dementia dominant Juvenile onset: leg weakness dominant Childhood-onset Clinical patterns Encephalopathic features Neuromuscular features Movement disorders Autonomic…

Onset types

  • Adult onset: dementia dominant
  • Juvenile onset: leg weakness dominant
  • Childhood-onset

Clinical patterns

Encephalopathic features

Neuromuscular features

Movement disorders

Autonomic features

Other features

Differential diagnosis

Acronym

References

  1. Sone J, Mori K, Inagaki T, et al. Clinicopathological features of adult-onset neuronal intranuclear inclusion disease. Brain 2016; 139:3170-3186.
  2. Tai H, Wang A, Zhang Yet al. Clinical features and classification of neuronal intranuclear inclusion disease. Neurol Genet 2023; 9:e200057.
  3. Furuta M, Sato M, Kasahara H, et al. Clinical, radiological, and molecular analyses of neuronal intranuclear inclusion disease with polyglycine inclusions. J Neurol Sci 2023; 448:120618.
  4. Wiltshire KM, Dunham C, Reid S, Auer RN, Suchowersky O. Neuronal intranuclear inclusion disease presenting as juvenile parkinsonism. Can J Neurol Sci 2010; 37:213-218.
  5. Deng J, Gu M, Miao Y, et al. Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet 2019; 56:758-764.
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