Neuronal Ceroid Lipofuscinosis NCL 12 (Cattle Dog Type)

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Test Overview:

Dogs suffer from many of the same hereditary progressive neurodegenerative diseases that occur in humans. Among these are a group of disorders designated the neuronal ceroid lipofuscinoses (NCLs). In people these diseases are characterized by apparently normal development followed by progressive declines in cognitive and motor functions, loss of vision, seizures, and in most cases premature death [1]. These clinical signs are accompanied by progressive degeneration of the central nervous system and usually the retina as well.

Category:

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

Gene:

ATP

Variant Detected:

c.1118C?>?T

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis https://doi.org/10.1016/j.ymgme.2018.11.015

Associated Breed(s):

Australian Cattle Dog, Australian Kelpie, Australian Stumpy Tail Cattle Dog, Koolie , Smithfield,