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Ataxia, Cerebellar, Juvenile to Adolescent, RAB24-related
Breed: Gordon Setter
Generic Phene Data
Breeds
Relevance Rating: There is moderate evidence or research available for these breeds
General
Disease Name
Ataxia, Cerebellar, Juvenile to Adolescent, RAB24-related
OMIA
1913
Gene Name
RAB24
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.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Gordon Setter, Old English Sheepdog
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Synonym
Hereditary ataxia or Cerebellar ataxia; mutation originally found in Old English Sheepdog and Gordon Setter
Gene Name
RAB24
Mutation
c.113A>C
Nature of test
mutation test
FCI Number
6
GTP Breed
Gordon Setter
VetGen LLC
GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
RAB24
Mutation
c.113G>A
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
HA
Gene Name
RAB24
Mutation
c.113A>C
Mutation Comment
g.36055678A>C
Antagene
GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Synonym
Canine Hereditary Ataxia
Gene Name
RAB24
Mutation
c.113A>C
Nature of test
mutation test
Application in the Breed
Progressive loss of coordination, truncal sway, intention tremor, severe gait disturbances
Inheritance
AR
FCI Number
6
GTP Breed
Gordon Setter
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
Gene Name
RAB24
Mutation
p.Q38P; c.113A>C
Nature of test
mutation test
FCI Number
6
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