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H429

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 10 (NCL10), is caused by a recessive mutation to the gene CTSD. It is found in the Amerian Bulldog.

Caratteristiche cliniche

American Bulldogs develope clinical signs between 1 and 3 years of age and include mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behavior.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 16386934

Omia ID: 1505

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