Disease overview

Ataxia means "without coordination". Degeneration of the cerebellar structures causes ataxia, which is a neurological sign of defective motor coordination that can affect gait, balance, speech, and gaze. The cerebellum is the part of the brain responsible for controlling coordination and balance as it supports planning, timing, and force of movements and fine tunes complex movements. This is a severe form with no cure.

Gene name

KCNJ10

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by cerebellar disease have abnormal, uncoordinated movements (ataxia), intention tremors, and lack of balance. Muscles of the eyes may be affected, presenting with rhythmic eye flicking called "nystagmus". Symptoms of this early-onset disease present by 4-7 weeks of age and become progressively worse, causing rapid decline in coordination and movement. This is a severe form that presents with shivering and inability to walk, and typically requires euthanasia.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Clinical signs associated with this disease can arise from different causes, such as inflammation, infection, or abnormal and excessive growth of tissue (neoplasia). A veterinarian can perform diagnostics to help identify the cause, and genetic testing is necessary to determine if there is an underlying genetic cause.

Breeds at higher risk

Malinois

Citations

Van Poucke M, Stee K, Bhatti SF, Vanhaesebrouck A, Bosseler L, Peelman LJ, Van Ham L. The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs. Eur J Hum Genet. 2017 Feb;25(2):222-226. doi: 10.1038/ejhg.2016.157. Epub 2016 Dec 14. PMID: 27966545; PMCID: PMC5386501.

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. doi: 10.1534/g3.116.038455. PMID: 28007838; PMCID: PMC5295610.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.