title: Inheritance of Chiari-Like Malformation: Can a Mixed Breeding Reduce the Risk of Syringomyelia?
abstract: Canine Chiari-like malformation (CM) is a complex abnormality of the skull and craniocervical junction associated with miniaturization and brachycephaly which can result in the spinal cord disease syringomyelia (SM). This study investigated the inheritance of CM in a Griffon Bruxellois (GB) family and feasibility of crossbreeding a brachycephalic CM affected GB with a mesaticephalic normal Australian terrier and then backcrossing to produce individuals free of the malformation and regain GB breed characteristics. The study family cohort (n = 27) included five founder dogs from a previous baseline study of 155 GB which defined CM as a global malformation of the cranium and craniocervical junction with a shortened skull base and increased proximity of the cervical vertebrae to the skull. T1-weighted sagittal DICOM images of the brain and craniocervical junction were analysed for five significant traits (two angles, three lines) identified from the previous study and subsequent Qualitative Trait Loci analysis. Mean measurements for mixed breed, pure-breed and baseline study groups were compared. Results indicated that mixed breed traits posed less risk for CM and SM and were useful to distinguish the phenotype. Moreover on the MR images, the filial relationships displayed by the traits exhibited segregation and those presenting the greatest risk for CM appeared additive towards the severity of the condition. The external phenotypes revealed that by outcrossing breed types and with careful selection of appropriate conformation characteristics in the first generation, it is possible to regain the GB breed standard and reduce the degree of CM. The four GB affected with SM in the study all exhibited reduced caudal skull development compared to their relatives. The craniocervical traits may be useful for quantifying CM and assessing the possibility of SM thus assisting breeders with mate selection. However, such a system requires validation to ensure appropriateness for all breeds at risk.
authors.affiliation: School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.
authors.forename: Susan P
authors.initials: SP
authors.lastname: Knowler
authors.affiliation: Fitzpatrick Referrals, Eashing, Godalming, Surrey, United Kingdom.
authors.forename: Henny
authors.initials: H
authors.lastname: v/d Berg
authors.affiliation: akm-stats, Glasgow, Scotland, United Kingdom.
authors.forename: Angus
authors.initials: A
authors.lastname: McFadyen
authors.affiliation: School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.
authors.forename: Roberto M
authors.initials: RM
authors.lastname: La Ragione
authors.affiliation: School of Veterinary Medicine, Faculty of Health & Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.|Fitzpatrick Referrals, Eashing, Godalming, Surrey, United Kingdom.
authors.forename: Clare
authors.initials: C
authors.lastname: Rusbridge
mesh_terms: D000818:Animals; D001139:Arnold-Chiari Malformation / Q000235:genetics* / Q000473:pathology; D001947:Breeding; D004285:Dogs; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013595:Syringomyelia / Q000235:genetics / Q000473:pathology / Q000517:prevention & control*