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Neonatal Cerebellar Cortical Degeneration, Hungarian Vizsla

General

Disease Name
Neonatal Cerebellar Cortical Degeneration, Hungarian Vizsla
Mutation
c.2653+1G>A
Mutation 2
g.45530566G>A
Test Type
Genetic Disease/Disorder
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.
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