Canine Ceroid Lipofuscinosis

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The Canine ceroid lipofuscinosis (CCL) is a genetic disease in various breeds which body cells, particularly nerve cells damaged. It corresponds to neuronal ceroid lipofuscinosis (NCL) in humans and is also referred to in the literature as NCL in dogs. CCL is incurable and always fatal.

Pathophysiology

The CCL is a group of lysosomal storage diseases that are based on different mutations depending on the breed of dog . They are all simply inherited as an autosomal recessive trait and lead to the continuous storage of ceroid and lipofuscin in the nerve cells, whereby the age at the initial diagnosis and the average life expectancy can vary depending on the causative mutation. The storage of the substances impairs the function of the nerve cells, which leads to progressive degeneration of the nervous system and corresponding neurological symptoms.

clinic

Signal element

The age at which the symptoms of the disease first become noticeable varies between about six months and six to seven years, depending on the breed. Dogs of the Dalmatian and Australian Cattle Dog breeds are usually presented as early as the first year of life; Chihuahuas , Miniature Schnauzers and Badger Hacks between two and four years old; Labrador Retriever and Welsh Corgi usually only ages six and up. In English Cocker Spaniels (1.5-6) and Polish Lowland Sheepdog (0.5-4.5) the age at diagnosis varies greatly. Two forms of the disease occur in the dachshund , which occur around the age of nine months and between four and a half and six and a half years.

Symptoms

The symptoms result from the loss of function of the nervous system, which results from the storage of ceroid and lipofuscin. It comes about to functional deficits such as ataxia , but also to personality changes such as unsafe behavior in familiar surroundings, dementia , aggression, disorientation and loss of housebreaking . Symptoms get worse over time.

Genetics and Breeding Hygiene

So far, all known variants of CCL have been described as simply autosomal recessive . This means that the parents of an affected dog and all of its first generation offspring that have already been born are certainly carriers and two thirds of the clinically healthy full siblings of infected puppies also carry the defective allele ; they are therefore to be excluded from breeding.

In breeds for which a genetic test is available ( American Bulldog , Border Collie , English Setter , Dachshund (genetic test only for the CCL in young dogs), Tibetan terriers ), carriers of the defective allele can be identified. By only mating such carriers to dogs that have been genetically tested to carry two healthy alleles, clinical occurrence of the disease in the population can be avoided.

Individual evidence

  1. ↑ Anne Wöhlke, Ute Philipp, Rolf Brahm, Ottmar Distl: Molecular genetic elucidation of the neuronal ceroid lipofuscinosis (NCL) in the Tibetan Terrier. ( online )

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