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Ataxia, cerebellar, ATP1B2-related
Breed: Dutch Shepherd Dogs
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
GTPs
General
Disease Name
Ataxia, cerebellar, ATP1B2-related
OMIA
2110
Gene Name
ATP1B2
Mutation
c.130_131insLT796559.1
Mutation 2
g.32551064_32551065insLT796559
Test Type
Genetic Disease/Disorder
Details
SDCA2 is a form of spongy degeneration with cerebellar ataxia affecting the Belgian Shepherd Dog. Age of onset 4 weeks of age. Symptoms include generalized ataxic gait, seizures, and pacing as well as circling and central blindness - with rapid progression. Seizures may cause death. Histopathological examination revealed vacuolation of the neuropil, and neuronal necrosis and severe gliosis in the spinal cord. In the hippocampus, neuronal necrosis and presence of hypertrophic astrocytes with vesicular nuclei are present, similar as in Alzheimer type II cells.
Details 2
SDCA2 is a form of spongy degeneration with cerebellar ataxia affecting the Belgian Shepherd Dog. Age of onset 4 weeks of age. Symptoms include generalized ataxic gait, seizures, and pacing as well as circling and central blindness, with rapid progression in severity. Seziures may cause death.
Published
Inheritance
AR
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
SDCA2
Gene Name
ATP1B2
Mutation
c.130_131ins[LT796559.1:g.50_276]
Mutation Comment
g.32551064_32551065ins[LT796559.1:g.50_276]
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