Prevalence and heritability of symptomatic syringomyelia in Cavalier King Charles Spaniels and long-term outcome in symptomatic and asymptomatic littermates
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Prevalence and heritability of symptomatic syringomyelia in Cavalier King Charles Spaniels and long-term outcome in symptomatic and asymptomatic littermates. / Thøfner, Maria Søndergaard; Stougaard, C. L.; Westrup, Ulrik; Madry, A. A.; Knudsen, C. S.; Berg, H.; Jensen, C. S. E.; Handby, R. M. L.; Gredal, Hanne Birgit; Fredholm, Merete; Berendt, Mette.
In: Journal of veterinary internal medicine / American College of Veterinary Internal Medicine, Vol. 29, No. 1, 2015, p. 243-250.Research output: Contribution to journal › Journal article › Research › peer-review
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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
Y1 - 2015
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
VL - 29
SP - 243
EP - 250
JO - Journal of Veterinary Internal Medicine
JF - Journal of Veterinary Internal Medicine
SN - 0891-6640
IS - 1
ER -
ID: 130328945