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Cerebellar Ataxia
Breed: Finnish Hound
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful in this breed
General
Disease Name
Cerebellar Ataxia
OMIA
1692
Gene Name
SEL1L
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.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Finnish Hound
HSP Test-Specific Data
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
DNA My Dog
GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Ataxia, cerebellar, progressive early-onset, SEL1L-related
GTP Disease Synonym
Neuroaxonal dystrophy
Gene Name
SEL1L
Mutation
c.1972T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kyóstilä, K., Cizinauskas, S., Seppälä, E.H., Suhonen, E., Jeserevics, J., Sukura, A., Syrjä, P., Lohi, H. : A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endopla
Application in the Breed
Carriers may be bred to normal animals (N/ca x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ca x N/ca) nor of affected animals (ca/ca). Lack of coordination, difficulty balancing and walking, tremor. progression is fast (euthanized before 6 months of age)
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
51
GTP Breed
Finnish hound
Embark
GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Ataxia, cerebellar, progressive early-onset, SEL1L-related
GTP Disease Synonym
Neuroaxonal dystrophy
Gene Name
SEL1L
Mutation
c.1972T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kyóstilä, K., Cizinauskas, S., Seppälä, E.H., Suhonen, E., Jeserevics, J., Sukura, A., Syrjä, P., Lohi, H. : A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endopl
Application in the Breed
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 cereb
Inheritance
AR
FCI Number
51
GTP Breed
Finnish hound
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
Mutation Comment
g.53778458A>G
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
Laboklin Gmbh & Co. KG
GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Ataxia, cerebellar, progressive early-onset, SEL1L-related
Gene Name
SEL1L
Mutation
c.1972T>C
Nature of test
mutation test
FCI Number
51
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
Orivet Genetic Pet Care
GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Ataxia, cerebellar, progressive early-onset, SEL1L-related
GTP Disease Synonym
Neuroaxonal dystrophy
Gene Name
SEL1L
Mutation
c.1972T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kyóstilä, K., Cizinauskas, S., Seppälä, E.H., Suhonen, E., Jeserevics, J., Sukura, A., Syrjä, P., Lohi, H. : A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endopla
Application in the Breed
Carriers may be bred to normal animals (N/ca x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ca x N/ca) nor of affected animals (ca/ca). Lack of coordination, difficulty balancing and walking, tremor. progression is fast (euthanized before 6 months of age)
Inheritance
AR
FCI Number
51
GTP Breed
Finnish hound
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Ataxia, cerebellar, progressive early-onset, SEL1L-related
Gene Name
SEL1
Mutation
c.1972T>C
Nature of test
mutation test
FCI Number
51
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
Wisdom Panel - Kinship
GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Ataxia, cerebellar, progressive early-onset, SEL1L-related
GTP Disease Synonym
Neuroaxonal dystrophy
Gene Name
SEL1
Mutation
c.1972T>C
Nature of test
mutation test
GTP- or Breed-Specific Publications
Kyóstilä, K., Cizinauskas, S., Seppälä, E.H., Suhonen, E., Jeserevics, J., Sukura, A., Syrjä, P., Lohi, H. : A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endopla
Application in the Breed
Carriers may be bred to normal animals (N/ca x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/ca x N/ca) nor of affected animals (ca/ca). Lack of coordination, difficulty balancing and walking, tremor. progression is fast (euthanized before 6 months of age)
Inheritance
AR
FCI Number
51
GTP Breed
Finnish hound
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SEL1L
Mutation
c.1972T>C
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
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Key Comment