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H330

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 working days

Caractéristiques

Breeds

Gene

Organ

specimen

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

Chromosome

Also known as

Year Published

Informations générales

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 of the disease, known as Neuronal Ceroid Lipofuscinosis 6 (NCL6), is found in the Australian Shepherd, and is caused by a recessive mutation to the gene CLN6.

Caractéristiques cliniques

Symptoms of NCL6 include decreased vision progressing to complete blindness. Progressive neurological symptoms which have been observed are anxiety, circling behavior and loss of coordination.

Additional Information

Références

Pubmed ID: 21234413

Omia ID: 1443

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