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Neuronal Ceroid Lipofuscinosis A (Tibetan Terrier Type)

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Description:

Neuronal ceroid lipofuscinosis also known as the Batten disease results from excessive accumulation of lipopygments in body’s tissue. This caused by lack one of several enzymes necessary for the lipopygments normal breakdown. The lipopygments are called lipofuscin, also known as autofluorescent lysosomal storage bodies. The lipopygment lipofuscin in case of Neuronal ceroid lipofuscinosis builds up in the neural cells and some organs, such as liver, spleen, kidneys etc. This storage causes neuronal loss, cortical atrophy, and cerebellar and retinal degeneration resulting in seizures, progressive deterioration of cognition (dementia), motor function impairment (involuntary movements, myoclonus, ataxia, spasticity) and blindness.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

ATP13A2

Variant Detected:

c.1623delG

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192819/?tool=pubmed

Associated Breed(s):

Mixed Breed, Tibetan Terrier ,

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