Research project


Thematic area

Biomedical sciences

Project area

Neuroscienze (DSB.AD004)

Structure responsible for the research project

Institute of genetics and biophysics "Adriano Buzzati Traverso" (IGB)

Project manager

Phone number: +390816132251


CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy)
is an adult-onset, dominantly inherited disorder caused by NOTCH3 mutations. It is characterized by a
variable spectrum of symptoms, even within families, including recurrent subcortical infarctions, dementia,
and less frequently, migraine and psychiatric symptoms. Among NOTCH3 mutations, the p.Arg1231Cys
mutation has been reported in CADASIL patients. That mutation was also found in a general population
study (UK Biobank volunteer study) with a prevalence of 4/10,000 and was found associated with an
increased risk of developing incident stroke or TIA. In addition, the p.Arg1231Cys mutation is found in the
public exome database ExAC (1.9/1,000) raising the question about a milder severity of this mutation.
Further, the lack of clear genotype-phenotype correlations has led to the suggestion that other factors may
modulate the disease process. Therefore, these data reveal that further studies characterizing individuals
carrying this mutation would be important for medical care. In a founder population of South Italy under
study since 2002 [...]

Start date of activity



Cerebrovascular Disease, Gene Mapping, Magnetic Resonance Imaging

Last update: 06/06/2023