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Dog hereditary diseases

DSD119
Neuronal ceroid lipofuscinosis type 12
NCL12
10
Dogs
Hereditary diseases
A neurodegenerative disease characterized by the accumulation of autofluorescent lipopigments in the cells of the nervous system. Common neurological signs include cognitive impairment, ataxia, loss of vision, weakness, gait disturbance, seizures, tremors, and aggressive behavior. Clinical signs appear between 4 and 6 years of age and progress slowly over several years. NCL12 in Tibetan Terrier dogs is caused by a single nucleotide deletion in the ATP13A2 gene, resulting in the destruction of the splice site and the loss of 69 amino acids of the expressed protein.
Autosomal recessive inheritance
ATP13A2
N
M
Tibetan terrier
Individual breeds