Term Name: | neuronal intranuclear inclusion disease |
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Synonyms: | |
Definition: | A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. |
Ontology: | Human Disease [DOID:0081294] ( DOID:0081294 ) |