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BMJ Case Rep. 2013 Jan 25;2013. pii: bcr2012007285. doi: 10.1136/bcr-2012-007285.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): a rare cause of dementia.

Author information

1
Old Age Psychiatry, Parklands Hospital, Basingstoke, Hampshire, UK. thelma2@ntlworld.com

Abstract

The clinical course of a 60-year-old gentleman with a history of atypical migraine, recurrent encephalopathic episodes and progressive cognitive impairment is presented. He was diagnosed with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy, a rare genetic disorder of the cerebral blood vessels caused by mutations in the Notch 3 gene on chromosome 19. The diagnosis was confirmed by MRI, skin biopsy and genetic testing. His cognitive function has progressively deteriorated and he continues to receive supportive care provision. The course and review of the condition are highlighted.

PMID:
23355563
PMCID:
PMC3604186
DOI:
10.1136/bcr-2012-007285
[Indexed for MEDLINE]
Free PMC Article

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