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]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
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