Donate
Cerebellar Ataxia
Breed: Norrbottenspitz
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
SEL1
Mutation
c.1972T>C
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
SEL1
Mutation
c.1972T>C
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
SEL1
Mutation
c.1972T>C
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
SEL1
Mutation
c.1972T>C
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
SEL1
Mutation
c.1972T>C
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
SEL1
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
SEL1
Mutation
c.1972T>C
Nature of test
mutation test
FCI Number
276
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
SEL1
Mutation
c.1972T>C
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
SEL1
Mutation
c.1972T>C
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
SEL1
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
276
GTP Breed
Norrbottenspitz
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
SEL1
Mutation
c.1972T>C
-
HGTD Quick Search
-
The portal for Genetic Testing Providers (labs); genetic tests, and tests by breed: as well as information on quality indicators and genetic counseling resources.
GOAL: Robust genetic testing supporting health improvements & a sustainable future for healthy dogs. -
HGTD Database Resources
How to use the HGTD
Using HGTD - YouTube Videos
HGTD Quality Indicators
Acronyms - Mode of Inheritance♦ 2020-New What is a Relevance Rating?
FAQs
Answers to frequently asked questions about the HGTD
Accreditation Basics
This brief overview may help you identify what types of accreditation are important to you, when choosing your genetic test provider.
Accreditation and Industry Standards
List of organizations throughout the world that are involved in matters of accreditation and establishing industry standards.
Choosing a Genetic Test Provider
Choosing a genetic test provider can be daunting. This short article helps you to consider what is important to you, and your dogs, in finding the right test provider for you. -
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
Key Comment