Neurol Case Rep | Volume 2, Issue 1 | Case Report | Open Access

A Case Report: A CADASIL with a New Mutation in NOTCH3

Wei Jiangang and Zhang Xiaoning*

Department of Neurology, Fourth Affiliated Hospital of Traditional Chinese Medicine of XMU, China

*Correspondance to: Zhang Xiaoning 

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Background: Cerebral autosomal dominant hereditary arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familiar small-vessel disease, which clinical symptom is an unexplained ischemic event with cognitive impairment and some of these patients have a migraine history. Gene genetic tests have found that the NOTCH3 gene mutation caused CADASIL.
Methods: We report one case of a patient diagnosed with an acute ischemic stroke. One-year after treatment review, who considered to be diagnosed as the CADASIL.
Results: Abnormal cranial MRI may be considered as CADASIL disease, followed by genetic testing of the NOTCH3 gene in patients and their families.
Conclusion: We found the new gene mutation which had never been reported, which demonstrated that the mutation of C.1585 to 1586insT resulted in a change of amino acid synthesis which starting from the 529 amino acid Tyr, which may lead to the occurrence of CADASIL.


CADASIL; Leukoencephalopathy; Subcortical white matter; NOTCH3


Jiangang W, Xiaoning Z. A Case Report: A CADASIL with a New Mutation in NOTCH3. Neurol Case Rep. 2019; 2(1): 1009.

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