Spongy Degeneration With Cerebellar Ataxia 1 (SDCA1)
SDCA1 Spongy Cerebellar Degeneration with Cerebellar Ataxia
Spongy Degeneration with Cerebellar Ataxia (SDCA1) is a neurodegenerative disease affecting Belgian Shepherd breeds. The mutation causes an interruption in potassium channels that leads to potassium accumulation and subsequent neurological attacks. Symptoms of this disease can appear between 4-8 weeks of age and are characterized by loss of stability, stumbling, falling, and tremors. Dogs will typically show a weakness in their hind limbs and the disease symptoms can be triggered by exercise or stress situations. There is no known treatment available to prevent disease progression and puppies susceptible to this disease are typically euthanized soon after symptoms are detected.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Cerebellar Ataxia nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Cerebellar Ataxia but will, if bred, pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with Cerebellar Ataxia and are likely to develop neurodegenerative disease.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
KCNJ10
Chromosome
Ch. 38
Mutation
C.986T>C
Publication:
Mauri N, Kleiter M, Leschnik M, Högler S, Dietschi E, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O’Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V, Leeb T. A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1). G3 (Bethesda). 2017 Feb 9;7(2):663-669. [PubMed: 28007838]
