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Neuronal Ceroid Lipofuscinosis Border Collie Type (NCL5)
| Acronym: | NCL, NCL5 |
| Gene: | CLN5 |
| Mutation: | c.619C >T |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Neuronal ceroid lipofuscinosis Border Collie type (NCL) constitutes a group of recessively inherited lysosomal storage diseases that primarily affect neuronal cells. Typical clinical signs of these progressive neurodegenerative diseases include behavioral abnormality, sleep problems, mental retardation, dementia, seizure, a motor abnormality such as ataxia, and/or in most cases visual problems leading to blindness.
Although symptoms of NCL in Border collies may be observable to owners as early as 15 months, the age of onset and severity can vary greatly between individuals. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia. The clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations (displayed as fly biting), hyperactivity, and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities, such as house training, walking, and eating. Although complete blindness occurs in some cases. Due to the debilitating nature of the disease, Border collies suffering from NCL rarely survive beyond 28 months.
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:
Melville, S.A., Wilson, C.L., Chiang, C.S., Studdert, V.P., Lingaas, F., and Wilton, A.N. (2005). A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86, 287–294.
Mizukami, K., Chang, H.-S., Yabuki, A., Kawamichi, T., Kawahara, N., Hayashi, D., Hossain, M.A., Rahman, M.M., Uddin, M.M., and Yamato, O. (2011). Novel rapid genotyping assays for neuronal ceroid lipofuscinosis in Border Collie dogs and high frequency of the mutant allele in Japan. J. Vet. Diagn. Invest. 23, 1131–1139.