Spongy Degeneration with Cerebella Ataxia Subtype 1, KCNJ10-related
Breed: Dutch Shepherd Dog/ longhaired
Generic Phene Data
Breeds
Relevance Rating: There is some 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 for these breeds
General
Disease Name
Spongy Degeneration with Cerebella Ataxia Subtype 1, KCNJ10-related
OMIA
2089
Gene Name
KCNJ10
Mutation
c.627C>G
Mutation 2
c.986T>C
Test Type
Genetic Disease/Disorder
Details
Ataxia seems to come in breed-related, or breed-specific types. It is characterized by uncoordinated movements, and can have a range of other movement-related symptoms. For this version, two types are described: Spinocerebellar ataxia with myokymia, seizures, or both (SAMS), and Spongy degeneration with cerebellar ataxia 1 (SDCA1). SAMS appears to relate to Russell terrier groups, with an average age of onest of the cerebellar ataxia between 2-6 monts. With the myokymia element, this range goes to 3-8 months. SDCA1 occurs in Belgian Malinois dogs and has an earlier age of onset than SAMS, between 4-13 weeks of age. Affected dogs showed shivering or twitching, and were unable to start walking without falling. Some dogs experience hearing (auditory) changes.
Details 2
Ataxia appears to manifest in breed-related, or breed-specific forms. Ataxia is characterized by uncoordinated movements, and can have a range of other symptoms. For this gene, there are two forms described: Spinocerebellar ataxia with myokymia, seizures, or both (SAMS), and Spongy degeneration with cerebellar ataxia 1 (SDCA1). SAMS appears to relate to Russell terrier groups, with an average age of onest of the cerebellar ataxia between 2-6 monts. With the myokymia element, this range goes to 3-8 months. SDCA1 occurs in Belgian Malinois dogs and has an earlier age of onset than SAMS, between 4-13 weeks of age. Affected dogs showed shivering or twitching, and were unable to start walking without falling. Some dogs experience hearing (auditory) changes.
Published
Gilliam, D., O'Brien, D.P., Coates, J.R., Johnson, G.S., Johnson, G.C., Mhlanga-Mutangadura, T., Hansen, L., Taylor, J.F., Schnabel, R.D. : A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med 28:871-7, 2014. Pubmed reference: 24708069. DOI: 10.1111/jvim.12355.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Smooth-Haired Fox Terrier, Belgian Shepherd, Jack Russell Terrier, Belgian Malinois, Parson Russell Terrier, Russell Terrier
Breed-specific 1
Smooth-Haired Fox Terrier
Breed-specific 1 Details
c.627C>G
Breed-specific 2
Belgian Malinois
Breed-specific 2 Details
c.986T>C
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
SDCA1
Gene Name
SDCA1
Mutation
unpublished
FCI Number
223