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Journal of Neurology and Clinical Neuroscience

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Cadasil case with distal arteriopathy: A typical Cadasil

Author(s): Vahideh Nasr

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is the most common heritable cause of stroke and vascular dementia in adults that  caused by mutations in the Notch-3 gene on chromosome 19q12 encodes . Clinical manifestations such as Stroke, migraine with aura, Psychiatric problems, seizures, and vision problems accrue due to brain’s vasculopathy, neurodegeneration, and immune system reaction .  Although the Notch3 gene mutation happens not only in the brain's vascular smooth muscle cells but also in all the cells and all systemic vessels show deposition of Granular osmiophilic material (GOM), According to studies, pathological changes occur mainly in the brain, heart, liver, lungs, spleen, skin, and testes. But lower limb artery involvement has not been reported yet. Here we report a 36 years old man with lower limb arteriopathy which was confirmed the diagnosis of CADASIL by neuroimaging and genetic analysis for Notch-3 mutation.