Categories: Nervous system phene

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: 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 (Dog) (VBO_0200577).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).