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Papers of the Week

Papers: 2 Mar 2024 - 7 Mar 2024

2024 Feb

Eur Rev Med Pharmacol Sci




Peculiar CADASIL phenotype in monozygotic twins carrying a novel NOTCH3 pathogenetic variant.


Pascarella A, Manzo L, Marsico O, Gasparini S, Falcone E, Cammaroto S, Sabatini U, Aguglia U, Ferlazzo E


Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominantly inherited cerebral small vessel disease caused by Neurogenic locus notch homolog protein 3 (NOTCH3) gene mutations. The main clinical features include migraine with aura, recurrent ischemic strokes and dementia. Brain MRI typically shows multiple small lacunar infarcts and severe, diffuse, symmetrical white matter hyperintensities (WMHs), with characteristic involvement of the anterior temporal pole, external capsule, and superior frontal gyrus. Reports of twins with CADASIL are scarce. Herein we describe a pair of monozygotic twins with peculiar CADASIL phenotype, carrying a new NOTCH3 variant.