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H958

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.

10 Arbeidsdager

Spesifikasjoner

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

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 particular variant of the disorder, known as Neuronal Ceroid Lipofuscinosis 8 (NCL8), is caused by a recessive mutation to the gene CLN8. The specific mutation analysed in this test is found in the Saluki. Closely related variants also occur in the English Setter, Australian Shepherd, German Shorthaired Pointer and Alpenländische Dachsbracke.

Kliniske egenskaper

Affected dogs begin presenting with behavioural changes (anxiety and restlessness) within the first year of life. The disease gradually progresses to impaired vision, hearing, tremors, seizures, difficulty walking and loss of housetraining. Due to poor quality of life, euthanasia is likely necessary.

Tilleggsinformasjon

Referanser

Pubmed ID: 29446145

Omia ID: 1506

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