Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Cerebellar Ataxia

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds

General

Disease Name
Cerebellar Ataxia
Mutation
c.1972T>C
Test Type
Genetic Disease/Disorder
Details
This form of ataxia is characterised by being an early-onset, progressive disease resulting in a lack of coordination, difficulty balancing and walking, and tremor. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI. Progression is fast, with some dogs being euthanized before 6 months of age.
Details 2
Inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination... The Finnish Hound suffers from an early-onset progressive cerebellar ataxia... Neurological examinations on ten affected dogs revealed rapidly progressing generalized cerebellar ataxia, tremors, and failure to thrive. Clinical signs were present by the age of 3 months, and cerebellar shrinkage was detectable through MRI. Pathological and histological examinations indicated cerebellum-restricted neurodegeneration. (Kyostila et al, 2012)
Published
Kyostila, K., Cizinauskas, S., Seppala, E.H., Suhonen, E., Jeserevics, J., Sukura, A., Syrja, 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 8:e1002759, 2012. Pubmed reference: 22719266. DOI: 10.1371/journal.pgen.1002759.
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.