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H804

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.

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 specific variant of the disease analysed in this test is variously referred to as Neuronal Ceroid Lipofuscinosis 4A (NCL 4A), Cerebellar Cortical Abiotrophy, Cerebellar Cortical Degeneration, Cerebellar Ataxia or Mucopolysaccharidosis (MPS). It occurs in the American Staffordshire Terrier, and is caused by a recessive mutation to the gene ARSG.

Clinical features

Extra information

References

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2. Collect DNA sample

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3. Results

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