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H494

Neuronal Ceroid Lipofuscinosis (NCL) is 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

Svaber, EDTA blod, heparinblod, sæd, vev
Mode of Inheritance

Chromosome

Also known as

Year Published

Generell informasjon

Neuronal Ceroid Lipofuscinosis (NCL) is 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 1 (NCL1 or CLN1), is caused by a recessive mutation to the gene PPT1, and is found in the Dachshund. Another variant of CLN1 has also been found in the Cane Corso.

Kliniske egenskaper

Affected dogs experience progressing neurological symptoms within the first year of life. These symptoms can include nervousness, increased sensitivity to noises, loss of coordination, circling behavior and loss of vision progressing to full blindness. Euthanasia on humane grounds is often desirable due to poor quality of life.

Tilleggsinformasjon

Referanser

Pubmed ID: 20494602

Omia ID: 1504

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