遇见数据集

Erratum: Clinical and Radiological Features in CADASIL and <b><i>NOTCH3</i></b>-Negative Patients: A Multicenter Study from Turkey

收藏
DataCite Commons2020-09-01 更新2024-07-25 收录
官方服务:

资源简介:

<b><i>Background:</i></b> The diversity of clinical presentation and neuroimaging findings of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) from different regions of the world has not yet been studied in depth. Here we investigated the variability of clinical, radiological and genetic data of 48 patients analyzed for <i>NOTCH3</i> mutation in Turkey. <b><i>Methods:</i></b> Clinical evaluation was made according to a preformed questionnaire. Cranial neuroimaging findings were determined on the basis of T1, T2, FLAIR and proton-density magnetic resonance scans. For genetic analysis, polymerase chain reaction was performed with primers flanking exons 2-6 and 11 of <i>NOTCH3 </i>gene. <b><i>Results:</i></b> Twenty-five patients (52.1%) were diagnosed as CADASIL with <i>NOTCH3</i> mutation, while 23 patients (47.9%) had no mutation (<i>NOTCH3</i>-negative patients). The mean age and age at stroke onset were lower in male CADASIL patients (p &lt; 0.03). A family history of migraine (p = 0.012), stroke (p &lt; 0.001), recurrent strokes (p = 0.020) and dementia (p = 0.012) was more common in CADASIL patients. Temporal pole involvement was more common in CADASIL patients (p = 0.004). <b><i>Conclusion:</i></b> It is of clinical importance to identify the heterogeneity of CADASIL from different countries due to a low correlation of clinical and radiological data with respect to <i>NOTCH3</i> mutation.

提供机构:
Karger Publishers
创建时间:
2017-07-25
二维码
社区交流群
二维码
科研交流群
商业服务