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NOTCH2NLC GGC Repeat Expansion in Patients With Vascular Leukoencephalopathy.

Yi-Chu LiaoCheng-Yu WeiFu-Pang ChangYing-Tsen ChouShao-Lun HsuChih-Ping ChungTakeshi MizuguchiNaomichi MatsumotoShaw-Fang YetYi-Chung Lee
Published in: Stroke (2023)
GGC repeat expansion accounted for 3% of genetically unsolved Taiwanese vascular leukoencephalopathy cases after excluding participants with cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL), cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). NIID should be considered in patients manifesting cSVD, especially in those with characteristic neuroimaging feature of NIID.
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