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A man with an unusual bipolar disease (CADASIL)

Par : Type de matériel : TexteTexteLangue : français Détails de publication : 2016. Sujet(s) : Ressources en ligne : Abrégé : CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant disease of the small cerebral arteries. It develops on average over a twenty-year period, presenting with migraine with aura (40%), mood disorders (20%), small subcortical infarcts (80%), and cognitive impairment which progresses to dementia, remaining constant at the end of its evolution. Mood disorders can be an indicator. Their atypical nature, resistance to treatment, or a suggested family history should raise suspicion of a diagnosis. MRI can be performed and, if it shows lesions suggestive of a disease of the small cerebral arteries, a request should be made for genetic testing to be performed to search for a NOTCH3 gene mutation characteristic of CADASIL. There is no available treatment to date but there are lines of research now being conducted on a mouse model.
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CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an autosomal dominant disease of the small cerebral arteries. It develops on average over a twenty-year period, presenting with migraine with aura (40%), mood disorders (20%), small subcortical infarcts (80%), and cognitive impairment which progresses to dementia, remaining constant at the end of its evolution. Mood disorders can be an indicator. Their atypical nature, resistance to treatment, or a suggested family history should raise suspicion of a diagnosis. MRI can be performed and, if it shows lesions suggestive of a disease of the small cerebral arteries, a request should be made for genetic testing to be performed to search for a NOTCH3 gene mutation characteristic of CADASIL. There is no available treatment to date but there are lines of research now being conducted on a mouse model.

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