neuronal intranuclear inclusion disease

Term ID

DOID:0081294

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. https://pubmed.ncbi.nlm.nih.gov/27797808/

References

• OMIM:603472

Ontology

Human Disease   ( DOID:0081294 )