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Neuronal Ceroid Lipofuscinosis MFSD8 (Chinese Crested Type)
$50.00 (RRP)
$50.00 (MEMBER PRICE)
Description:
NCL is a defect in metabolism leads to a build up of a pigmented toxin called ceroid lipofuscin within cells, including those of the brain and retina. The disease is progressive in nature and show declines in the functioning of both cognitive and motor skills. Example of issues that occur include seizures, cognitive impairment, anxiety, increased sensitivity to sound and vision loss. Unfortunately this disease usually greatly shorten the lifespan of the dogs diagnosed with it, with most diagnosed dogs being eithanized at around 23 months of age.
Category:
Nervous system / Neurologic - Associated with the brain, spinal cord and nerves
Gene:
Major facilitator superfamily domain containing 8 (MFSD8) on Chromosome 19
Variant Detected:
Nucleotide Deletion c.843delT p.Phe282Leufs13STOP
Severity:
Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.
Mode of Inheritance:
Autosomal Recessive
Research Citation(s):
Guo, J. et al. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis (2015) BMC Vet Res, 10;960.
Associated Breed(s):
Chihuahua, Chinese Crested, Mixed Breed,
