Neuronal Ceroid Lipofuscinosis 8 - Alpine Dachsbracke Type

Category:

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

Gene:

CLN8

Variant Detected:

Deletion on Chromosome 8

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):

Hirz, M., Drögemüller, M., Schänzer, A., Jagannathan, V., Dietschi, E., Goebel, H. H., … Herden, C. (2017). Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. Molecular Genetics and Metabolism, 120(3), 269–277.

Associated Breed(s):

Unknown,