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Neuronal Ceroid Lipofuscinosis Tibetan Terrier type NCL
| Acronym: | NCLA, NCL12 |
| Gene: | ATP13A2 |
| Mutation: | c.1623delG |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Neuronal ceroid lipofuscinosis Tibetan terrier type (NCL) is an autosomal recessive genetic disease. It belongs to a group of neurodegenerative disorders called Neuronal ceroid lipofuscinoses (NCLs), also known as the Batten disease. It results from excessive accumulation of lipopygments in the body’s tissue. This is caused by a lack of one of several enzymes necessary for the lipopygments normal breakdown. The lipopygments are called lipofuscin, also known as autofluorescent lysosomal storage bodies, and they appear fluorescent when examined under blue or ultraviolet light. Autofluorescent lysosomal storage bodies are made of fats and proteins. The lipopygment lipofuscin in the case of Neuronal ceroid lipofuscinosis builds up in the neural cells and some organs, such as the liver, spleen, kidneys, etc. This storage causes neuronal loss, cortical atrophy, and cerebellar and retinal degeneration resulting in seizures, progressive deterioration of cognition (dementia), motor function impairment (involuntary movements, myoclonus, ataxia, spasticity), and blindness.
NCL has been described in humans and various animals, such as sheep and dogs. They all share symptoms that include a progressive loss of mental and physical nervous system functions. Neuronal ceroid lipofuscinosis Tibetan terrier type is characterized by progressive neurodegeneration that results in severe neurological impairment and premature death. NCL affected dogs, in the first months appear as normal. The age when the disease starts to display depends on the disease’s type. Up till now, 7 forms of NCL have been identified in dogs. NCL is documented in the following dog breeds: Dachshund, English setter, Australian shepherd, American bulldog, Tibetan terrier, Border collie, Polish owczarek nizinny (Polish lowland sheepdog), Chihuahua, and Labrador retriever. AnimaLabs offers genetic testing for Neuronal ceroid lipofuscinosis Tibetan terrier type (NCL).
Since neuronal ceroid lipofuscinosis, Tibetan terrier type (NCL) is an autosomal recessive disease, the inheritance pattern is following: the healthy parents of a cub with an autosomal recessive form of NCL are obligate heterozygotes, and therefore carry one mutant allele. Heterozygotes have no symptoms. At conception, each cub has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Defected genes for autosomal recessive disease can be passed for many generations without affected individuals occurring until two carriers are bred to one another. The only way to find out if there is a chance of getting an affected puppy is to do genetic testing. Since the severity of this group of diseases, genetic testing for Neuronal ceroid lipofuscinosis Tibetan Terrier type (NCL) is highly recommended.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Katz, M. L. (2004): A mutation in the CLN8 gene in English Setter dogs .with neuronal ceroid-lipofuscinosis. Biochem Biophys Res Commun. 327(2):541-7.
Awano, T. (2006.): A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab. 87(4):341-8.