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.
SEPP1
Autosomal recessive
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.
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.
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.
Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.
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