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Ataxia, Cerebellar, Juvenile to Adolescent, RAB24-related

Breeds

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

General

Disease Name
Ataxia, Cerebellar, Juvenile to Adolescent, RAB24-related
Mutation
c.113A>C
Mutation 2
p.Q38P
Test Type
Genetic Disease/Disorder
Details
Dogs develop difficulties in controling their gait and movement - with legs often going beyond the intended position. Also, a body sway and tremor, with signs progressing to more severe gait disturbances. Age of onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years.
Details 2
"The clinical phenotype is identical in both breeds with an onset of cerebellar ataxia first noted in juvenile to young adult dogs aged from six months to four years. Dogs develop pronounced hypermetria, a truncal sway and intention tremor, and signs progress to cause severe gait disturbances. Cerebellar atrophy can be identified by magnetic resonance imaging (MRI)" (Agler et al. 2014)
Published
Agler, C., Nielsen, D.M., Urkasemsin, G., Singleton, A., Tonomura, N., Sigurdsson, S., Tang, R., Linder, K., Arepalli, S., Hernandez, D., Lindblad-Toh, K., van de Leemput, J., Motsinger-Reif, A., O'Brien, D.P., Bell, J., Harris, T., Steinberg, S., Olby, N.J. : Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24. PLoS Genet 10:e1003991, 2014. Pubmed reference: 24516392. DOI: 10.1371/journal.pgen.1003991.
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