Neuronal Ceroid Lipofuscinosis 8

Neuronal ceroid lipofuscinosis 8 (NCL8) is a rare genetic disorder that primarily affects certain breeds of dogs, including English Setters, Gordon Setters, Irish Setters, and Llewellin Setters. This condition is caused by a mutation in the CLN8 gene, specifically a G>A change at chromosome 37 position 30883950. NCL8 is inherited in an autosomal recessive manner, meaning that a dog must inherit the mutated gene from both parents to develop the disease. The disorder leads to the accumulation of waste products in the lysosomes, which impairs cell function and eventually causes cell death. This results in progressive neurological symptoms that typically begin between 8 and 12 months of age.