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Ataxia, cerebellar, ATP1B2-related

General

Disease Name
Ataxia, cerebellar, ATP1B2-related
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
Mauri, N., Kleiter, M., Dietschi, E., Leschnik, M., Högler, S., Wiedmer, M., ? Leeb, T. (2017). A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2). G3: Genes|Genomes|Genetics, 7(8), 2729?2737. http://doi.org/10.1534/g3.117.043018
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