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H902

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. The variant of the disease analysed in this test, known as Neuronal Ceroid Lipofuscinosis 1 (NCL1), is caused by a recessive mutation to the gene PPT1, and is found in the Cane Corso. A closely related variant of NCL1 is found in the Dachshund.

Kliniske egenskaper

Affected puppies begin presenting with symptoms of NCL at approximately half a year of age. Symptoms include gradual loss of vision and ataxia (loss of coordination), as well as neurological signs such as strabismus (wandering eye), absent menace response and a tilted head. The disease is severe and progressive, and euthanasia is likely to be necessary due to poor quality of life.

Tilleggsinformasjon

Referanser

Pubmed ID: 28008682

Omia ID: 1504

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