No abstract

Anterior cerebral artery A1 segment hypoplasia is an uncommon fetal variant of the circle of Willis. The frequency of this congenital variation is 1–13% as derived from angiograms and autopsy reports. Impaired collateral blood flow through the circle of Willis is a recognized risk factor for ischemic stroke. The A1 segment of the anterior cerebral artery is a principal supplier of anterior collateral blood flow. The aim of our study was to determine whether A1 segment hypoplasia may be responsible for acute ischemic stroke. We consecutively examined 280 acute ischemic stroke patients (aged 66.9 ± 14.2 years). Cerebral magnetic resonance angiography was performed within 72 h of ischemic stroke onset. The overall incidence of A1 variation in our experimental group was 15.0% (n = 42, agenesis/hypoplasia = 18/24), which was statistically higher than in the control group (n = 12). The majority (n = 30, 71.42%) had ipsilateral striatal lacunar infarctions. Based on our results, A1 agenesis/hypoplasia appears to be a risk factor contributing to ischemic stroke, especially to strokes in arteries penetrating the striatal area.

Cleidocranial dysplasia (CCD; MIM 119600) is a rare autosomal dominant disorder characterized by facial, dental, and skeletal malformations. To date, rearrangement and mutations involving RUNX2, which encodes a transcription factor required for osteoblast differentiation on 6p21, has been the only known molecular etiology for CCD. However, only 70% patients were found to have point mutations, 13% large/contiguous deletion but the rest of 17% remains unknown. We ascertained a family consisted of eight affected individuals with CCD phenotypes.Direct sequencing analysis revealed no mutations in the RUNX2. Real time quantitative PCR were performed which revealed an exon 2 to exon 6 intragenic deletion in RUNX2. Our patients not only demonstrated a unique gene change as a novel mechanism for CCD, but also highlight the importance of considering ''deletion'' and ''duplication'' in suspected familial cases before extensive effort of gene hunting be carried.