Cerebellar Ataxia (SDCA1) H331

Background

Usually, heritable ataxia in dogs presents with a wide range of clinical symptoms, histopathologic findings and variable age of onset. The observed heterogeneity led to the assumption of different heritable forms of ataxia segregating in dogs. A mutation in KCNJ10 was identified as the cause of an autosomal recessive form called ?spinocerebellar ataxia with myokymia, seizures or both? which affects various Terrier breeds. A second mutation in KCNJ10 was detected leading to a different form called ?spongy degeneration with cerebellar ataxia, subtype 1? (SDCA1). The variant was exclusively found in Malinois dogs, a variety of the Belgian Shepherd breed and also showed an autosomal recessive form of

Inheritance

. Hence, as not all affected Belgian Shepherd dogs presenting with neurological abnormalities were homozygous for that variant, more than one form of heritable ataxias must exist in the breed.

Test specific information

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Age

Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.

Throughput

Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.

Location of disease or trait

This disease leads to a loss of brain function.

Breed dependence

This DNA test is available for the following breeds: Belgian Shepherd.

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Semen, Tissue, Swab. Please contact PharmaDNA if you wish to submit other material as listed.

Result

An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.

Inheritance

This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous). Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.

Severity of Disease

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