A hypomyelinating leukodystrophy in German Shepherd dogs

Journal of Veterinary Internal Medicine

Berett Dengler¹  Pia R. Quitt¹  Andreas Brühschwein¹  Andrea Fischer¹  Franziska Wielaender¹  Andrea Meyer‐Lindenberg¹  Hannes Lohi²  Marjo K. Hytönen²  Tosso Leeb³  Veera Karkamo⁴  Kaspar Matiasek⁵ 

[1] Centre for Clinical Veterinary Medicine, Faculty of Veterinary Medicine LMU Munich Munich Germany;Department of Medical and Clinical Genetics University of Helsinki Helsinki Finland;Institute of Genetics, Vetsuisse Faculty University of Bern Bern Switzerland;Production and Companion Animal Pathology Section Finnish Food Authority Helsinki Finland;Section of Clinical and Comparative Pathology, Faculty of Veterinary Medicine LMU Munich Munich Germany;

关键词: animal model;    brain maturation;    development;    dysmyelination;    genetic;    hypomyelination;   

DOI  :  10.1111/jvim.16085

来源: DOAJ

【 摘 要 】

Abstract Background Shaking puppy syndrome is commonly attributed to abnormal myelination of the central nervous system. Hypothesis/Objectives To report the long‐term clinical course and the imaging characteristics of hypomyelinating leukodystrophy in German Shepherd dogs. Animals and Methods Three related litters with 11 affected dogs. Results The 11 affected dogs experienced coarse, side‐to‐side tremors of the head and trunk, which interfered with normal goal‐oriented movements and disappeared at rest. Signs were noticed shortly after birth. Nine dogs were euthanized, 3 dogs underwent pathological examination, and 2 littermates were raised by their breeder. Tremors improved gradually until 6 to 7 months of age. Adult dogs walked with severe residual pelvic limb ataxia. One dog developed epilepsy with tonic‐clonic seizures at 15 months of age. Conventional magnetic resonance imaging (MRI) disclosed homogenous hyperintense signal of the entire subcortical white matter in 3 affected 7‐week‐old dogs and a hypointense signal in a presumably unaffected littermate. Subcortical white matter appeared isointense to gray matter at 15 and 27 weeks of age on repeated MRI. Abnormal white matter signal with failure to display normal gray‐white matter contrast persisted into adulthood. Cerebellar arbor vitae was not visible at any time point. Clinical signs, MRI findings, and pathological examinations were indicative of a hypomyelinating leukodystrophy. All parents of the affected litters shared a common ancestor and relatedness of the puppies suggested an autosomal recessive mode of inheritance. Conclusion We describe a novel hypomyelinating leukodystrophy in German Shepherd dogs with a suspected inherited origin.

【 授权许可】

Unknown