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Achromatopsia (ACHM), also called Cone Degeneration Disease (CD), is a degenerative disorder of the retinas that damages cone cells and causes vision loss, colour blindness and sensitivity to light. This variant of the disease, known as Achromatopsia-2, is found in the Labrador Retriever. It is caused by a recessive mutation to the gene CNGA3. A related variant of the disorder is also found in the German Shepherd.
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, occurring in the Golden Retriever, is the result of a recessive mutation to the CLN5 gene. A similar mutation also occurs in the Australian Cattle Dog and Border Collie.
Alaskan Husky Encephalopathy (AHE) is a severe neurodegenerative disease unique to Alaskan Huskies. AHE causes neurological deficits such as seizures and loss of coordination, and is ultimately fatal. The disorder is caused by a recessive mutation to the gene SLC19A3. A related variant of the disorder also occurs in the Yorkshire Terrier, where it is known as Juvenile-Onset Necrotizing Encephalopathy.
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This particular variant of the disorder, known as Neuronal Ceroid Lipofuscinosis 8 (NCL8), is caused by a recessive mutation to the gene CLN8. The specific mutation analysed in this test is found in the Saluki. Closely related variants also occur in the English Setter, Australian Shepherd, German Shorthaired Pointer and Alpenländische Dachsbracke.
Gangliosidosis (GM2 Type I) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes. These mutations lead to a deficiency of an enzyme that is crucial for breaking down ganglioside GM2 in cells, especially in the brain. As a result, gangliosides build up in nerve cells, causing their dysfunction and death. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXA in the Japanese Chin dog (also known as Japanese Spaniël).
La ceroidolipofuscinosi neuronale (NCL) è una vasta gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e visione e, infine, la morte. Questa variante, la ceroidolipofuscinosi neuronale di tipo 8 (NCL8), si verifica nel Australian Shepherd e nel Pointer tedesco a pelo corto. È causata da una mutazione recessiva del gene CLN8. Altre razze portatrici di mutazioni per NCL8 includono il Setter inglese, l’Alpenländische Dachsbracke e il Saluki.
Neuronal Ceroid Lipofuscinosis (NCL) is the name referring to a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant of the disease, known as Neuronal Ceroid Lipofuscinosis 6 (NCL6), is found in the Australian Shepherd, and is caused by a recessive mutation to the gene CLN6.
Cerebellar cortical degeneration (CCD) is a neurodegenerative disease process affecting many dog breeds. The disease affects a specific area of the brain known as the cerebellum. In cerebellar degeneration, the cells within the cerebellum die, causing neurological symptoms in dogs.
This variant of the disorder, also known as Neonatal Cortical Cerebellar Degeneration (NCCD), is found in the Vizsla. It is caused by a recessive mutation to the gene SNX14.
Gangliosidosis (GM2 Type II) is a fatal, progressive neurodegenerative disease caused by mutations in the HEXA and HEXB genes. These mutations lead to a deficiency of an enzyme that is crucial for breaking down ganglioside GM2 in cells, especially in the brain. As a result, gangliosides build up in nerve cells, causing their dysfunction. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXB in all cat breeds.
La ceroidolipofuscinosi neuronale (NCL) è il nome che si riferisce a una vasta gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e visione e, infine, la morte. Questa variante, che si verifica nell’Australian Cattle Dog, è nota come ceroidolipofuscinosi neuronale 12 (NCL12) ed è causata da una mutazione recessiva del gene ATP13A2. Una variante correlata si verifica anche nel Tibetan Terrier.
La lipofuscinosi ceroide neuronale (NCL) è un’ampia gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e vista e, infine, la morte.
Questa specifica variante della malattia analizzata in questo test è variamente indicata come lipofuscinosi ceroide neuronale 4A (NCL 4A), abiotrofia corticale cerebellare, degenerazione corticale cerebellare, atassia cerebellare o mucopolisaccaridosi (MPS). Si verifica nell’American Staffordshire Terrier ed è causato da una mutazione recessiva del gene ARSG.
La ceroidolipofuscinosi neuronale (NCL) è il nome che si riferisce a una vasta gamma di condizioni neurologiche degenerative che causano danni progressivi ai nervi, con conseguente perdita di mobilità e visione e, infine, la morte. Questa variante, nota come ceroidolipofuscinosi neuronale 7 (NCL 7), è causata da una mutazione recessiva del gene MFSD8 e si verifica nel Chinese Crested Dog e nel Chihuahua.
Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 5 (NCL5 or CLN5), is caused by a recessive mutation to the gene CLN5. This variant is found in the Australian Cattle Dog and the Border Collie. A related variant is found in the Golden Retriever.
Neuronal Ceroid Lipofuscinosis (NCL) is a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. This variant, Neuronal Ceroid Lipofuscinosis type 8 (NCL8), is caused by a recessive mutation to the gene CLN8, and occurs in the English Setter. Other variants of NCL8 are found in the Australian Shepherd, German Shorthaired Pointer, Alpenländische Dachsbracke and Saluki.
