Disease overview

Central Nervous System (CNS) Atrophy and Cerebellar Ataxia is a disease caused by a mutation in a gene that plays a role in Selenium transport and storage. 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.

Gene name

SEPP1

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by CNS Atrophy and Cerebellar Ataxia typically exhibit uncoordinated gaits, intention tremors, and lack of balance. They may present with rhythmic eye flicking called nystagmus. Signs present as early as 2 weeks of age and there severity is highly variable.

How is it diagnosed

Clinical signs may be suggestive of CNS Atrophy and Cerebellar Ataxia, but other causes must be ruled out if a genetic cause is not readily apparent. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Christen M, Högler S, Kleiter M, Leschnik M, Weber C, Thaller D, Jagannathan V, Leeb T. Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs. PLoS Genet. 2021 Aug 2;17(8):e1009716. doi: 10.1371/journal.pgen.1009716. PMID: 34339417; PMCID: PMC8360551.

Disclaimer

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