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Acta Neurol Taiwan. 2009 Dec;18(4):262-6.

A case report about CADASlL: mutation in the NOTCH 3 receptor.

Author information

1
Diskapi Yildirim Beyazit Training and Research Hospital, Neurology Department, Ankara, Turkey. drsennurdelibas@yahoo.com

Abstract

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare autosomal dominant genetic disease characterized with recurrent stroke, migrainous headache, cognitive deficits, and psychiatric symptoms associated with mutations in the NOTCH 3 gene on chromosome 19. Here, we report a case of CADASIL who presented with migrainous headache, behavioral disorder, and familial history of stroke and the diagnosis was established by the findings of head magnetic resonance images revealing characteristic white matter lesions and a mutation in the NOTCH 3 gene.

PMID:
20329594
[Indexed for MEDLINE]

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