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neuronal intranuclear inclusion disease
Summary
- 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.
- Super Class
- autosomal dominant disease neurodegenerative disease
External Links
- Disease Ontology
- DOID:0081294
- Mondo Disease Ontology
- OMIM
