Neonatal Cerebellar Cortical Degeneration, Hungarian Vizsla
Breed: Hungarian shorthaired pointer/ Rövidszörü Magyar Viszla
Generic Phene Data
Breeds
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 for these breeds
General
Disease Name
Neonatal Cerebellar Cortical Degeneration, Hungarian Vizsla
Mutation
c.2653+1G>A
Mutation 2
g.45530566G>A
Details
Neonatal cerebellar cortical degeneration (NCCD) or cerebellar abiotrophy is a neurodegenerative disease that affects several canine breeds. This entry describes an ataxia form that is caused by a genetic variant in the SNX14 gene. The characteristic feature of this inherited disease is cerebellar ataxia. Age of onset 3 months of age and the progression is relatively fast. The affected dogs suffer from general lack of coordination, tremors and head tremor, lack of balance and coordination.
Details 2
Neonatal cerebellar cortical degeneration (NCCD) or cerebellar abiotrophy is a neurodegenerative disease that affects several canine breeds. This entry describes an ataxia form that is caused by a genetic variant in the SNX14 gene. Other phenotypically related ataxias in dogs may also be caused by variants in the ATP1B2, CAPN1, GRM1, ITPR1, KCNJ10, RAB24, SEL1L, and SPTBN2 genes. The characteristic feature of this inherited disease is cerebellar ataxia. The onset and the progression of the disease differ among the various breeds. The typical ataxia begins to develop at around three months of age and the progression is relatively fast. The affected dogs suffer from general lack of coordination, intention tremor and head tremor, insufficient response to threat and symptoms of dysfunction of balance organ incl. nystagmus. The primary effects of the mutation are degeneration and loss of Purkinje cerebellar cells and the secondary effects include degeneration of cells of the granular and molecular cell layers that results in general cerebellar atrophy.
Published
Fenn, J., Boursnell, M., Hitti, R.J., Jenkins, C.A., Terry, R.L., Priestnall, S.L., Kenny, P.J., Mellersh, C.S., Forman, O.P. : Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. BMC Genet 17:123, 2016. Pubmed reference: 27566131. DOI: 10.1186/s12863-016-0433-y.
Breed Specific Info
Researched Breeds
Hungarian Vizsla
Breed Specific Data
CAG GmbH Center for Animal Genetics
GTP Name
Center for Animal Genetics
GTP Disease Name
Cerebellar Cortical Degeneration, (CCD); mutation originally found in Vizsla
Gene Name
SNX14
Mutation
c.2653+1G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Fenn et al 2016
Inheritance
AR
FCI Number
57
GTP Breed
Hungarian shorthaired pointer/ Rövidsz?r? Magyar Viszla
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
GTP Disease Name
Cerebellar Cortical Degeneration, (CCD); mutation originally found in Vizsla
GTP Disease Synonym
Neonatal cerebellar cortical degeneration
Gene Name
SNX14
Mutation
c.2653+1G>A
Nature of test
mutation test
FCI Number
57
GTP Breed
Hungarian shorthaired pointer/ Rövidsz?r? Magyar Viszla
Genoscoper Laboratories Oy
GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Cerebellar Cortical Degeneration, (CCD); mutation originally found in Vizsla
Gene Name
SNX15
Mutation
c.2653+1G>A
Nature of test
mutation test
FCI Number
57
GTP Breed
Hungarian shorthaired pointer/ Rövidsz?r? Magyar Viszla
Wisdom Health (formerly Mars Veterinary)
GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
Cerebellar Cortical Degeneration, (CCD); mutation originally found in Vizsla
Gene Name
SNX15
Mutation
c.2653+1G>A
Nature of test
mutation test
FCI Number
57
GTP Breed
Hungarian shorthaired pointer/ Rövidsz?r? Magyar Viszla