CADASIL 2

Term ID

DOID:0111036

Synonyms

• autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2

Definition

A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. https://www.ncbi.nlm.nih.gov/pubmed/26063658

References

• ICD10CM:F01.1
• OMIM:616779

Ontology

Human Disease   ( DOID:0111036 )