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  1. Three-Dimensional Angioarchitecture of Rete Middle Cerebral Artery Anomalies and the Clinical Significance
    Luh HT, Yang ST, Lu YH, Lu YC, Chan JY, Tu YK, et al.
    Clin Neuroradiol, 2023 Jun;33(2):319-325.
    PMID: 36056108 DOI: 10.1007/s00062-022-01211-9
    PURPOSE: Rete middle cerebral artery (MCA) anomaly is characterized by a web-like network of arteries involving the first MCA segment (M1) and a normal downstream MCA. The detailed composition of this anomaly and the hemodynamic impacts on cerebral perfusion are rarely addressed. The purpose of this study was to elucidate the anatomical and hemodynamic perspectives of the rete MCA anomaly.

    METHODS: From August 2020 to December 2021, 4 rete MCA anomalies were identified at Shuang Ho hospital. Clinical information, perfusion magnetic resonance (MR) imaging, and angiographic images were collected. Detailed angioarchitecture, including types of arterial feeders and extent of rete involvement, were analyzed based on three-dimensional volume-rendering reconstruction images obtained from the catheter-based angiographies.

    RESULTS: Despite their variable clinical presentations (two hemorrhage, one ischemia, and one asymptomatic), all cases shared common angiographic findings as follows: (1) the internal carotid artery did not connect directly to the rete, (2) the anterior choroidal artery (AChA) was the artery constantly supplying the rete and (3) there was a watershed zone shift toward MCA territory. The perfusion MR cerebral blood flow map was symmetric in all studied cases.

    CONCLUSION: The AChA is an artery constantly supplying the rete, which suggests that the angioarchitectural features associated with this anomaly may be the result of both congenital and acquired compensatory processes. Cerebral perfusion remains preserved at the lesion side, despite angiographic evidence of watershed zone shift. These findings will be important for making better clinical judgments about this condition.

  2. The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago
    Liang KH, Lu YH, Niu CW, Chang SK, Chen YR, Cheng CY, et al.
    J Hum Genet, 2020 Jul;65(7):619-625.
    PMID: 32246049 DOI: 10.1038/s10038-020-0745-7
    The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To investigate the age and the possible ancestral origin of this mutation, a total of 33 male patients with the GLA IVS4+919G>A mutation, born in Taiwan, Japan, Singapore, Malaysia, Vietnam, and the Fujian and Guangdong provinces of China, were studied. Peripheral bloods were collected, and the Ilumina Infinium CoreExome-24 microarray was used for dense genotyping. A mutation-carrying haplotype was discovered which was shared by all 33 patients. This haplotype does not exist in 15 healthy persons without the mutation. Rather, a wide diversity of haplotypes was found in the vicinity of the mutation site, supporting the existence of a single founder of the GLA IVS4 mutation. The age of the founder mutation was estimated by the lengths of the mutation-carrying haplotypes based on the linkage-disequilibrium decay theory. The first, second, and third quartile of the age estimates are 800.7, 922.6, and 1068.4 years, respectively. We concluded that the GLA IVS4+919G>A mutation originated from a single mutational event that occurred in a Chinese chromosome more than 800 years ago.
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