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H458

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

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

Informazioni generali

Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 12 (NCL12), is caused by a recessive mutation to the gene ATP13A2. It is found in the Tibetan Terrier. A related variant is also found in the Australian Cattle Dog.

Caratteristiche cliniche

NCL usually starts with blindness in dusk and disorientation. Affected dogs can appear nervous or anxious. They often lack motor coordination, which worsens overtime. Later on the affected dogs can experience problems with going up the stairs, getting up and jumping. At the final stages mild to severe seizures can be observed.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 21362476,22022275

Omia ID: 1552

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