Cerebellar Ataxia (Finnish Hound Type)

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

SEL1L ERAD E3 ligase adaptor subunit (SEL1L) on chromosome 8

Variant Detected:

Base Substitution c.1972T>C Ser568Pro

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Kyöstilä K, et al. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. (2012) PLoS Genet. 8(6): e1002759

Associated Breed(s):

Finnish Hound, Mixed Breed,