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. Approximately 20 known disease-causing genes have been identified in both autosomal recessive and dominant ataxias in humans, but the genetic background of canine cerebellar ataxias remained largely unknown until a mutation in SEL1L gene was identified as the first early-onset degenerative cerebellar ataxia gene in dogs. Researchers detected a single nucleotide change in the SEL1L gene in Finnish Hounds, which causes an amino acid change in the encoded SEL1L protein and abnormal protein production.

Gene name

SEL1L

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by cerebellar disease have uncoordinated gaits (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 3 months of age and become progressively worse, causing rapid decline in coordination and movement.

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. Genetic testing is necessary to determine if there is an underlying genetic cause.

Breeds at higher risk

Citations

Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS Genet. 2012;8(6):e1002759. doi: 10.1371/journal.pgen.1002759. Epub 2012 Jun 14. PMID: 22719266; PMCID: PMC3375262.

Disclaimer

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