Term Name: neuronal intranuclear inclusion disease
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 )

Relationships
is a type of: autosomal dominant disease neurodegenerative disease