Screening for NOTCH3 Gene Mutations Among 151 Consecutive Korean Patients with Acute Ischemic Stroke

Author(s):  
Jay Chol Choi ◽  
Keun-Hwa Lee ◽  
Sook-Keun Song ◽  
Jung Seok Lee ◽  
Sa-Yoon Kang ◽  
...  
Platelets ◽  
2012 ◽  
Vol 24 (1) ◽  
pp. 75-76 ◽  
Author(s):  
Sun Young Cho ◽  
You La Jeon ◽  
Seok Keun Choi ◽  
Jin-Tae Suh ◽  
Hee Joo Lee ◽  
...  

2019 ◽  
Author(s):  
Chumpol Anamnart ◽  
Dittapong Songsaeng ◽  
Sirisak Chanprasert

Abstract Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with NOTCH3 gene. Clinical manifestations include strokes, transient ischemic events, psychiatric disturbances, dementia, as well as migraines. We report a case of a Thai man with severe phenotype of CADASIL presenting with recurrent seizures and acute ischemic stroke in whom classic vascular risk factors are also present. Case presentation A 50 year-old-man who has had history of mood disorder and progressive cognitive decline for 20 years as well as well-controlled diabetes mellitus and hypertension presenting with recurrent generalized seizures and acute right-sided weakness. The MRI of the brain showed acute infarction of the left pons, a large number of cerebral microbleeds throughout the brain and white matter abnormalities without classic anterior temporal lobe lesion. Molecular genetic testing identified homozygous pathologic variants, c.1672C>T (p. Arg558Cys) in the NOTCH3 gene. The diagnosis of CADASIL was confirmed. His clinical symptoms deteriorated, and he died of fever of unknown origin with secretion obstruction. Conclusion This case raises the awareness of an uncommon cause of acute ischemic stroke in patients with classic vascular risk factors and highlights the complete evaluation for an unexpected clinical presentation or unexpected diagnostic study results.


VASA ◽  
2014 ◽  
Vol 43 (1) ◽  
pp. 55-61 ◽  
Author(s):  
Konstantinos Tziomalos ◽  
Vasilios Giampatzis ◽  
Stella Bouziana ◽  
Athinodoros Pavlidis ◽  
Marianna Spanou ◽  
...  

Background: Peripheral arterial disease (PAD) is frequently present in patients with acute ischemic stroke. However, there are limited data regarding the association between ankle brachial index (ABI) ≤ 0.90 (which is diagnostic of PAD) or > 1.40 (suggesting calcified arteries) and the severity of stroke and in-hospital outcome in this population. We aimed to evaluate these associations in patients with acute ischemic stroke. Patients and methods: We prospectively studied 342 consecutive patients admitted for acute ischemic stroke (37.4 % males, mean age 78.8 ± 6.4 years). The severity of stroke was assessed with the National Institutes of Health Stroke Scale (NIHSS)and the modified Rankin scale (mRS) at admission. The outcome was assessed with the mRS and dependency (mRS 2 - 5) at discharge and in-hospital mortality. Results: An ABI ≤ 0.90 was present in 24.6 % of the patients whereas 68.1 % had ABI 0.91 - 1.40 and 7.3 % had ABI > 1.40. At admission, the NIHSS score did not differ between the 3 groups (10.4 ± 10.6, 8.3 ± 9.3 and 9.3 ± 9.4, respectively). The mRS score was also comparable in the 3 groups (3.6 ± 1.7, 3.1 ± 1.8 and 3.5 ± 2.3, respectively). At discharge, the mRS score did not differ between the 3 groups (2.9 ± 2.2, 2.3 ± 2.1 and 2.7 ± 2.5, respectively) and dependency rates were also comparable (59.5, 47.6 and 53.3 %, respectively). In-hospital mortality was almost two-times higher in patients with ABI ≤ 0.90 than in patients with ABI 0.91 - 1.40 or > 1.40 but this difference was not significant (10.9, 6.6 and 6.3 %, respectively). Conclusions: An ABI ≤ 0.90 or > 1.40 does not appear to be associated with more severe stroke or worse in-hospital outcome in patients with acute ischemic stroke.


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