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H978

Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.

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Specifications

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, known as Neuronal Ceroid Lipofuscinosis 7 (NCL 7) is caused by a recessive mutation to the gene MFSD8, and occurs in the Chinese Crested Dog and Chihuahua.

Clinical features

Affected dogs show neurological symptoms that can include compulsive licking, disorientation, blindness, anxiety, excessive sleep and hyper-responsiveness to stimuli. These symptoms tend to present within the first year of life. The disease is progressive, and euthanasia due to poor quality of life is likely necessary.

Additional information

References

Pubmed ID: 25551667

Omia ID: 1962

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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