Prevalence and heritability of symptomatic syringomyelia in Cavalier King Charles Spaniels and long-term outcome in symptomatic and asymptomatic littermates

TY - JOUR

T1 - Prevalence and heritability of symptomatic syringomyelia in Cavalier King Charles Spaniels and long-term outcome in symptomatic and asymptomatic littermates

AU - Thøfner, Maria Søndergaard

AU - Stougaard, C. L.

AU - Westrup, Ulrik

AU - Madry, A. A.

AU - Knudsen, C. S.

AU - Berg, H.

AU - Jensen, C. S. E.

AU - Handby, R. M. L.

AU - Gredal, Hanne Birgit

AU - Fredholm, Merete

AU - Berendt, Mette

N1 - Copyright © 2014 by the American College of Veterinary Internal Medicine.

PY - 2015/1/1

Y1 - 2015/1/1

N2 - Background: Syringomyelia (SM) is common in the Cavalier King Charles Spaniel (CKCS). Dogs with syringes express clinical signs or might be clinically silent. Objectives: To investigate the prevalence and heritability of symptomatic SM, the association between clinical signs and magnetic resonance imaging (MRI) findings, and long-term outcome. Animals: All CKCS registered in the Danish Kennel Club in 2001 (n = 240). Methods: A cross-sectional questionnaire-based prevalence study validated by telephone interviews and clinically investigated clinical signs of SM. Dogs were 6 years at the time of investigation. A prospective observational litter study including clinical investigations, MRI and 5-year follow-up of symptomatic and asymptomatic siblings. Heritability was estimated based on the scale of liability in the study population and litter cohort. Results: The cross-sectional study estimated a prevalence of symptomatic SM at 15.4% in the population. Thirteen symptomatic and 9 asymptomatic siblings participated in the litter study. Spinal cord syringes were confirmed in 21 of 22 littermates (95%). Syrinx diameter and mean syrinx: spinal cord ratio were significantly correlated with clinical signs (P < .01). Estimated heritability of symptomatic SM was 0.81. Symptomatic SM motivated euthanasia in 20%. Dogs with syringes, which expressed no clinical signs at the age of 6, remained asymptomatic in 14/15 cases (93%). Conclusions and Clinical Importance: The prevalence of symptomatic SM is high and genetics have a high impact on clinical disease expression. Further investigations of factors influencing the outbreak threshold of clinical signs of SM are desirable.

AB - Background: Syringomyelia (SM) is common in the Cavalier King Charles Spaniel (CKCS). Dogs with syringes express clinical signs or might be clinically silent. Objectives: To investigate the prevalence and heritability of symptomatic SM, the association between clinical signs and magnetic resonance imaging (MRI) findings, and long-term outcome. Animals: All CKCS registered in the Danish Kennel Club in 2001 (n = 240). Methods: A cross-sectional questionnaire-based prevalence study validated by telephone interviews and clinically investigated clinical signs of SM. Dogs were 6 years at the time of investigation. A prospective observational litter study including clinical investigations, MRI and 5-year follow-up of symptomatic and asymptomatic siblings. Heritability was estimated based on the scale of liability in the study population and litter cohort. Results: The cross-sectional study estimated a prevalence of symptomatic SM at 15.4% in the population. Thirteen symptomatic and 9 asymptomatic siblings participated in the litter study. Spinal cord syringes were confirmed in 21 of 22 littermates (95%). Syrinx diameter and mean syrinx: spinal cord ratio were significantly correlated with clinical signs (P < .01). Estimated heritability of symptomatic SM was 0.81. Symptomatic SM motivated euthanasia in 20%. Dogs with syringes, which expressed no clinical signs at the age of 6, remained asymptomatic in 14/15 cases (93%). Conclusions and Clinical Importance: The prevalence of symptomatic SM is high and genetics have a high impact on clinical disease expression. Further investigations of factors influencing the outbreak threshold of clinical signs of SM are desirable.

U2 - 10.1111/jvim.12475

DO - 10.1111/jvim.12475

M3 - Journal article

C2 - 25308931

SN - 0891-6640

VL - 29

SP - 243

EP - 250

JO - Journal of veterinary internal medicine / American College of Veterinary Internal Medicine

JF - Journal of veterinary internal medicine / American College of Veterinary Internal Medicine

IS - 1

ER -