Mitchell Thomas J, Knowler Susan P, van den Berg Henny, Sykes Jane, Rusbridge Clare
School of Clinical Veterinary Science, University of Bristol, Langford, Bristol BS40 5DU UK.
School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Duke of Kent Building, Guildford, Surrey GU2 7TE UK.
Canine Genet Epidemiol. 2014 Jul 29;1:9. doi: 10.1186/2052-6687-1-9. eCollection 2014.
Syringomyelia (SM) is a painful neurological condition, prevalent in brachycephalic toy breeds including the Cavalier King Charles Spaniel (CKCS). In these breeds, SM is typically secondary to Chiari-like Malformation (CM). There has been much debate in the scientific and veterinary communities to what extent head shape is indicative of either pathology, especially as certain craniosynostosis syndromes in humans (highly associated with CM) have characteristic facial and cranial morphologies. Elucidating a risk morphology would allow for selection away from these traits and proffer further breeding guidelines for the condition. Dogs were measured in multiple countries by means of a standardised bony landmark measuring protocol and photo analysis by blinded, trained researchers.
The results found two significant risk factors in the conformation of the CKCS: extent of brachycephaly and distribution of cranium. The study identified a greater amount of cranium distributed caudally (relative to the amount distributed rostrally) to be significantly protective against syrinx development at the levels of three years of age, five years of age and when comparing a sample of SM clear individuals over the age of five to those affected younger than three years of age. A decreased cephalic index (decreasing brachycephaly) was significantly protective at the latter level. Cephalic index and caudal cranium distribution exhibited a negative, linear relationship. Cephalic index demonstrated a positive linear relationship with the amount of doming of the head.
This study proposes a risk phenotype of brachycephaly with resulting rostrocaudal doming that is more rostrally distributed and hence sloping caudally. The results of this study may allow for selection against risk aspects of conformation in the CKCS in combination with the British Veterinary Association/Kennel Club CM/SM scheme to enable reduction in CM/SM incidence. Further research comparing this external risk phenotype to the internal presentation upon MRI would determine how these features are indicative of syrinx development. Utilising breeds in which CM free individuals are more available may allow for validation of this risk phenotype for CM or determine alternatives.
脊髓空洞症(SM)是一种引发疼痛的神经系统疾病,在包括骑士查理王小猎犬(CKCS)在内的短头玩具犬种中较为普遍。在这些犬种中,SM通常继发于 Chiari 样畸形(CM)。在科学界和兽医界,对于头部形状在多大程度上指示病理学存在诸多争论,尤其是因为人类某些颅缝早闭综合征(与 CM 高度相关)具有特征性的面部和颅骨形态。阐明一种风险形态将有助于筛选出不具有这些特征的犬,并为该病症提供进一步的繁殖指导方针。多个国家的研究人员通过标准化的骨性标志测量方案和照片分析,对犬进行了测量,这些研究人员均经过培训且在测量时处于盲态。
结果发现 CKCS 的形态存在两个显著的风险因素:短头程度和颅骨分布。该研究确定,相对于向头前部的分布量,更多的颅骨向尾部分布在三岁、五岁时以及在比较一组五岁以上无脊髓空洞症个体与三岁以下患病个体时,对脊髓空洞症的发展具有显著的保护作用。在后一种情况下,头指数降低(短头程度降低)具有显著的保护作用。头指数与尾侧颅骨分布呈负线性关系。头指数与头部隆起程度呈正线性关系。
本研究提出了一种短头风险表型,其导致的头前部到后部的隆起在头前部分布更多,因此向尾侧倾斜。本研究结果可能有助于结合英国兽医协会/养犬俱乐部的 CM/SM 方案,筛选出 CKCS 中不符合形态风险特征的犬,从而降低 CM/SM 的发病率。进一步将这种外部风险表型与 MRI 显示的内部表现进行比较的研究,将确定这些特征如何指示脊髓空洞症的发展。利用无 CM 个体更多的犬种可能有助于验证这种 CM 风险表型或确定替代方案。