Neuronal Ceroid Lipofuscinosis – Cat
Neural Ceroid Lipofuscinosis CLN6
General description
A genetic variant of the CLN6 gene has been described in cats that is associated with neuronal ceroid lipofuscinosis (CLN). This disease is a hereditary disorder in which metabolic abnormalities (lysosomal storage disorders) cause nerve tissue to be damaged or destroyed. As a young adult, the affected cat exhibited seizures that steadily increased in severity and duration, as well as impaired vision. The disease is usually fatal.
Breeds
DMH
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | NCL |
Test specifications
| Inheritance | autosomal-recessive |
| Gene | CLN6 |
| Mutation | G-A |
| References | OMIA:001443-9685 |
Neuronal ceroid lipofuscinosis NCL7
General description
A variant in the MFSD8 gene was found in a cat that causes neuronal ceroid lipofuscinosis type 7. Neuronal ceroid lipofuscinosis (NCL) is a metabolic disorder that belongs to the group of lysosomal storage diseases. Deposits in brain cells lead to their degeneration and, as a result, to severe dysfunction of the nervous system. Symptoms include loss of vision, balance problems (ataxia), abnormal behavior, a decline in mental abilities, shaking (tremor), and seizures.
The disease progresses steadily and is fatal. The first symptoms may appear in kittens, but they are often more noticeable in young adult cats.
Breeds
–
Order details
| Test number | Included only in LABOGeneticsXXL – Cat |
| Abbreviation | NCL |
Test specifications
| Inheritance | autosomal-recessive |
| Gen | MFSD8 |
| Mutation | DEL |
| References | OMIA:001962-9685 |
