AI Article Synopsis
- CADASIL is an inherited condition characterized by microvascular damage due to mutations in the Notch3 gene, leading to brain-related complications.
- The presence of common vascular risk factors and prothrombotic conditions can impact the severity and progression of CADASIL symptoms.
- A reported case highlights a middle-aged man with typical CADASIL features who also had a prolonged clotting time due to severe Factor XII deficiency, emphasizing the importance of considering vascular risks in these patients.
Article 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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.4103/0028-3886.57806 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!