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

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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: German Shepherd Dog (Dog) (VBO_0200577).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002321-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2024 De Miguel, R., Hague, D.W., Johnson, J.L., Zilinger, A.M., Kukekova, A., Lezmi, S. :
Congenital spongiform leukodystrophy in 2 female littermate German shepherd puppies. J Vet Intern Med , 2024. Pubmed reference: 38544400. DOI: 10.1111/jvim.17055.
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