57,48 47,50 IVA esclusa

H380

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.

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 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, occurring in the Golden Retriever, is the result of a recessive mutation to the CLN5 gene. A similar mutation also occurs in the Australian Cattle Dog and Border Collie.

Caratteristiche cliniche

Onset of NCL in the Golden Retriever occurs at about 15 months of age. Symptoms include ataxia (loss of coordination), anxiety, pacing/circling, tremors, aggression, visual impairment and seizures.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 25934231

Omia ID: 1482

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