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Neuronal Ceroid Lipofuscinosis 8 (NCL8)

Breeds

Relevance Rating: There is some evidence or research available for these 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
Neuronal Ceroid Lipofuscinosis 8 (NCL8)
Mutation
c.4911T>C
Mutation 2
c.349dupT
Mutation 3
deletion, gross (>20)
Test Type
Genetic Disease/Disorder
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Rapid disease progression of seizures, difficulties walking and keeping balance, decreasing vision and cognitive problems. Death at around 2 years of age
Application Information
Mutations for this may be breed-specific. Please see breed specific information for comments.
Published
Katz, ML., Khan, S., Awano, T., Shahid, SA., Siakotos, AN., Johnson, GS. : A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun 327:541-7, 2005. Pubmed reference: 15629147. DOI: 10.1016/j.bbrc.2004.12.038.

Breed Specific Info

Researched Breeds
Saluki, English Setter, Australian Shepherd, German Shorthaired Pointer, Alpenlandische Dachsbracke
Breed-specific 1
Saluki
Breed-specific 1 Details
Lingaas et al. (2018) reported a likely causal variant in the Saluki breed, namely a "single bp insertion (c.349dupT) in exon 2, introducing an immediate stop codon (p.Glu117*)" Reference: 2018 Lingaas, F., Guttersrud, O.A., Arnet, E., Espenes, A.: Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8. Anim Genet 49:52-58, 2018. Pubmed reference: 29446145. DOI: 10.1111/age.12629.
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