, Volume 26, Issue 2, pp 117-124

The spectrum of mutations for CADASIL diagnosis


Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited cerebrovascular disease due to mutations of the Notch3 gene at the chromosome locus 19p13. The clinical spectrum includes recurrent ischaemic episodes, cognitive deficits, migraine and psychiatric disorders. The histopathological hallmark of CADASIL is accumulation of electron dense granules (GOM) in the media of arterioles. MRI reveals extensive cerebral white matter lesions and subcortical infarcts. CADASIL was initially thought to be a rare disorder, but increasing numbers of families have been identified; therefore, it is likely that CADASIL is still largely underdiagnosed. Here we report an update on mutations of the Notch3 gene and some information on the pathogenesis of the disease.

The paper of Federico et al. on the spectrum of CADASIL mutations opens a new section of our Journal. The articles published under the heading “Update in Neurogenetics” will synthetically review gene mutations that have been reported to be associated with different neurological phenotypes.
Antonio Federico kindly accepted to coordinate the section. The readers of Neurological Sciences are invited to submit to him proposals focused on mutations relevant to different neurological disorders. Giuliano Avanzini Editor-in-chief of Neurological Sciences