CADASIL: a guide to a comparatively unrecognised condition in psychiatry
نویسندگان
چکیده
This guide to the neurological disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leuco encephalopathy (CADASIL) is specifically targeted at psychiatrists. The aims are to enhance awareness, provide educational clinical information and offer practical guidance on management of the disorder. An overview of diagnostic algorithms and recent research is also provided. Mark Taylor is a specialist registrar in forensic psychiatry with North Nottinghamshire Community Forensic Service (Forest House, The Forest, Southwell Road West, Mansfield NG18 4HH, UK. Email: [email protected]). His particular interest is in organic clinical presentations. Gillian Doody is Clinical Associate Professor and an honorary consultant psychiatrist with the Division of Psychiatry, University of Nottingham, UK.
منابع مشابه
New phenotype of the cerebral autosomal dominant arteriopathy mapped to chromosome 19: migraine as the prominent clinical feature.
A survey was carried out on a large family presenting the symptoms of familial arteriopathy (CADASIL) recently mapped to chromosome 19. This is characterised clinically by recurrent subcortical infarcts developing into pseudobulbar palsy and subcortical dementia, and radiologically by early MRI abnormalities. To characterise this familial condition, 43 members older than 20 years and spreading ...
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BACKGROUND AND PURPOSE CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare genetic disease caused by NOTCH3 gene mutations. A dysfunction in vasoreactivity has been proposed as an early event in the pathogenesis of the disease. The aim of this study was to verify whether endothelium dependent and/or independent function is altered in CA...
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OBJECTIVE Migraine with aura is a hallmark of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). In contrast with the majority of CADASIL patients, some affected subjects never experience visual symptoms during their attacks of migraine with aura. The aim of this study was to determine whether specific morphology of the primary visual cortex is...
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is caused by point mutations in the Notch3 gene. Presenilins are proteins involved in the cleaving of both Notch and the amyloid precursor protein (APP). In cases of early onset Alzheimer's disease mutations of the presenilin genes (PSEN 1 and PSEN 2) and APP can be found. A 64 year old patient ...
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BACKGROUND Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons. A cluster of mutations around exons 3 and 4 was originally reported and limited scanning of these exons was suggested for the diagnosis in most cases. OBJECTIV...
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