Jump to content
International Collaboration For Dog Health And Welfare. Join Us.

Neonatal Cerebellar Cortical Degeneration (NCCD)

General

Disease Name
Neonatal Cerebellar Cortical Degeneration (NCCD)
Disease Name 2
Cerebellar Abiotrophy
OMIA
175
Gene Name
SPTBN2
Mutation
c.5921del8bpTCAAGGCA
OMIM
600224
Test Type
Genetic Disease/Disorder
Details
Neonatal cerebellar cortical degeneration (NCCD) is a neurological disease affecting puppies. Signs include: slower and less coordinated puppies than littermates, falling, inability to regulate gait. Age of onset 3 weeks. This disease is considered to have slow or limited progression, but is also currently incurable.
Details 2
Neonatal cerebellar cortical degeneration is a neurodegenerative disease described in several canine breeds including the Beagle. Affected Beagles are unable to ambulate normally from the onset of walking and the main pathological findings include Purkinje cell loss with swollen dendritic processes. Previous reports suggest an autosomal recessive mode of inheritance...Previous studies have shown that ?-III spectrin is critical for Purkinje cell development, and the absence of this protein can lead to cell damage through excitotoxicity, consistent with the observed Purkinje cell loss, degeneration of dendritic processes and associated neurological dysfunction in this Beagle...(Foreman et al, 2012)
Published
Forman, O.P., De Risio, L., Stewart, J., Mellersh, C.S., Beltran, E. : Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. BMC Genet 13:55, 2012. Pubmed reference: 22781464. DOI: 10.1186/1471-2156-13-55.
Body/System/Process
Neurologic
Inheritance
AR
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.