Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy caused by missense mutations in the Notch3gene on chromosome 19. However, common vascular risk factors may additionally modify clinical expression and prog...
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Published in | Neurology India Vol. 57; no. 5; pp. 657 - 659 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
India
Medknow Publications and Media Pvt. Ltd
01.09.2009
Medknow Publications & Media Pvt. Ltd |
Subjects | |
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Abstract | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy caused by missense mutations in the Notch3gene on chromosome 19. However, common vascular risk factors may additionally modify clinical expression and progression of the disease. The role of various prothrombotic factors has also been implied. We report a case of a middle-aged man with typical clinical, neuroimaging and histological features of CADASIL, but with notably prolonged activated partial thromboplastin time. Hematological investigations revealed severe clotting Factor XII deficiency. This case illustrates that the occurrence of vascular risk factors should not be overlooked in patients with CADASIL. |
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AbstractList | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy caused by missense mutations in the Notch3gene on chromosome 19. However, common vascular risk factors may additionally modify clinical expression and progression of the disease. The role of various prothrombotic factors has also been implied. We report a case of a middle-aged man with typical clinical, neuroimaging and histological features of CADASIL, but with notably prolonged activated partial thromboplastin time. Hematological investigations revealed severe clotting Factor XII deficiency. This case illustrates that the occurrence of vascular risk factors should not be overlooked in patients with CADASIL. |
Audience | Academic |
Author | Sternic, Nadezda Pavlovic, Aleksandra Miljic, Predrag Lackovic, Maja Bajcetic, Milos Lackovic, Vesna |
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BackLink | https://www.ncbi.nlm.nih.gov/pubmed/19934572$$D View this record in MEDLINE/PubMed |
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Snippet | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited adult-onset microangiopathy caused by... |
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SubjectTerms | Brain - pathology CADASIL CADASIL - complications CADASIL - pathology Case studies Coagulation protein disorders Diagnosis Factor XII Deficiency - complications Factor XII Deficiency - pathology Gene mutations Genetic aspects Health aspects Humans Magnetic Resonance Imaging - methods Male Middle Aged Risk factors Skin - pathology Skin - ultrastructure |
Title | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency |
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