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Neuronal Ceroid Lipofuscinosis 1 (Dachshund Type)
Description

This condition is caused by accumulation of a yellow lipopigments in the body’s tissues mainly affecting the retina and nerve cells.

Lipofuscin in high levels causes membrane damage, damage to mitochondria and lysosomes causing progressive and permanent loss of motor and psychological ability.

Affected Dachshunds start to exhibit first symptoms around 9 months of age, such as stiff gait, lack of muscle coordination and difficulties in balancing and jumping.

The symptoms progress during following months and uncontrolled rhythmic head movements, ataxia and general weakness will develop.

Affected dogs also shows behavioral changes, such as increased nervousness, decreased interactions with other dogs, severe dementia, sensitivity to loud noises, circling behavior and increased inappropriate vocalization.

Eye examination reveals diffuse retinal thinning and severe retinal vessel degeneration.

Eye disorder progresses until complete blindness.

Unfortunaly most dogs are euthanised for humane reasons.

Diseases

Neuronal Ceroid Lipofuscinosis 1 (Dachshund Type)

$ 50.00

1

Associated Breed(s):

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Category:

Genetic Diseases

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

Palmitoyl-protein thioesterase 1 (PPT1) on Chromosome 15

Variant Detected:

Nucleotide Insertion c.736insC p.frameshift

Mode of Inheritance:

Recomended Screening:

Research Citation(s):

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