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GENATLAS PHENOTYPE
last update : 17-11-2020
Symbol LNINI
Location 1q21.2
Name leukoencephalopathy with neuronal intranuclear inclusions
Other name(s) Neuronal intranuclear inclusion disease
Corresponding gene NOTCH2LNC
Other symbol(s) NIID
Main clinical features
  • slowly progressive neurodegenerative disorder characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction; age at onset varies, but most individuals present as adults between about 30 and 70 years of age
  • pathologic investigation shows eosinophilic intranuclear inclusions in almost all cell types, including neurons, skin cells, fibroblasts, and skeletal muscle
  • brain imaging shows a characteristic leukoencephalopathy with high intensity signals in the corticomedullary junction on diffusion-weighted imaging (DWI), as well as white matter abnormalities in subcortical and brainstem regions
  • skin biopsy combined with brain imaging is useful for diagnosis
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    neurology
    Type disease
    Remark(s)