Targeted gene under study

NOTCH3 (OMIM 600276), homozygous/biallelic variants


NOTHC3 monoallelic variants are well known due to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, rare cases carrying biallelic variants in this gene have been described. Here we aim to delineate clinical, neuroimaging and genetic spectrum of biallelic NOTCH3 patients. We are interested in patients with loss of function or missense biallelic variants (both homozygous and compound heterozygous). We will need clinical features, geneticla data and neuroimaging images.

Coordinating clinicians/researchers

Pablo Iruzubieta –
Reza Maroofian


Queen Square, Institute of Neurology, UCL London

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: No