OMIA:002321-9615 : Leukodystrophy, hypomyelinating in Canis lupus familiaris

Categories: Nervous system phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Species-specific name: Shaking puppy syndrome

Species-specific description: Quitt et al. (2021) "described a novel hypomyelinating leukodystrophy in 11 related German Shepherd dogs. The clinical course was nonprogressive and adult dogs walked with residual pelvic limb ataxia. Repeated conventional brain MRI was useful to characterize abnormal maturation of subcortical and cerebellar white matter. The disease is thought to be genetic in origin with an autosomal recessive mode of inheritance."

Breed: German Shepherd Dog.


2021 Quitt, P.R., Brühschwein, A., Matiasek, K., Wielaender, F., Karkamo, V., Hytönen, M.K., Meyer-Lindenberg, A., Dengler, B., Leeb, T., Lohi, H., Fischer, A. :
A hypomyelinating leukodystrophy in German Shepherd dogs. J Vet Intern Med 35:1455-65, 2021. Pubmed reference: 33734486 . DOI: 10.1111/jvim.16085.

Edit History

  • Created by Imke Tammen2 on 08 Apr 2021
  • Changed by Imke Tammen2 on 08 Apr 2021