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H652

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

10 working days

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 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, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), is caused by a recessive mutation to the gene CLN8, and occurs in the English Setter. Other variants of NCL8 are found in the Australian Shepherd, German Shorthaired Pointer, Alpenländische Dachsbracke and Saluki.

Clinical features

Affected dogs develop symptoms of NCL between approximately 1 and 2 years of age. These symptoms include seizures, loss of vision, and decline of motor and cognitive ability. Most die from seizures by the age of 2 years.

Additional information

References

Pubmed ID: 15629147

Omia ID: 1506

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2. Collect DNA sample

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3. Results

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