H673 Degenerative Myelopathy, DM - Page 2 à 2

Gangliosidosis (GM2 Type II) – Cat All Breeds

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.

Neuronal Ceroid Lipofuscinosis 4A (NCL4A) – Cerebellar Ataxia

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 specific variant of the disease analysed in this test is variously referred to as Neuronal Ceroid Lipofuscinosis 4A (NCL 4A), Cerebellar Cortical Abiotrophy, Cerebellar Cortical Degeneration, Cerebellar Ataxia or Mucopolysaccharidosis (MPS). It occurs in the American Staffordshire Terrier, and is caused by a recessive mutation to the gene ARSG.

Cerebellar Degeneration-Myositis Complex (CDMC) – NSDTR

Cerebellar Degeneration-Myositis Complex (CDMC) is a severe, degenerative neuromuscular disorder that causes muscle weakness, atrophy and ultimately death. It is caused by a recessive mutation to the gene SLC25A12. The variant of the disease analysed in this test is found in the Nova Scotia Duck Tolling Retriever, particularly in the European population. A closely-related variant is also found in the Dutch Shepherd.

Neuronal Ceroid Lipofuscinosis 8 (NCL8) – 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 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.

Neuronal Ceroid Lipofuscinosis 5 (NCL5)

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.

Warburg Micro Syndrome 1 (WARBM1)

Warburg Micro Syndrome, type 1 (WARBM1) is a form of polyneuropathy, a severe degenerative nerve condition that causes vision problems, an altered voice, and lack of coordination. The onset starts at about four months of age, and affected dogs typically need to be euthanized on humane grounds within the first year. The disorder is caused by a recessive mutation to the gene RAB3GAP1, and is found in the Alaskan Husky (this test), and also the Black Russian Terrier and Rottweiler.

Neuronal Ceroid Lipofuscinosis 8-1 (NCL8-1) – English Setter

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.

Lagotto Storage Disease (LSD)

Lagotto Storage Disease is a metabolic disorder that is caused by enzyme deficiencies within the lysosome, resulting in the accumulation of undegraded substrates. The disorder is also known as Lysosomal Storage Disease (LSD), aberrant autophagy or Neurodegenerative Vacuolar Storage Disease. An autosomal recessive mutation in the ATG4D gene causes this LSD, which is observed in the Lagotto Romagnolo.

Neuronal Ceroid Lipofuscinosis 2 (NCL2) – Dachshund

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 2 (NCL2), is caused by a recessive mutation to the gene TPP1. It is found in the Dachshund.

Neuronal Ceroid Lipofuscinosis 1 (NCL1) – Cane Corso

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. The variant of the disease analysed in this test, known as Neuronal Ceroid Lipofuscinosis 1 (NCL1), is caused by a recessive mutation to the gene PPT1, and is found in the Cane Corso. A closely related variant of NCL1 is found in the Dachshund.

Neuronal Ceroid Lipofuscinosis 1 (NCL1) – Dachshund

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. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 1 (NCL1 or CLN1), is caused by a recessive mutation to the gene PPT1, and is found in the Dachshund. Another variant of CLN1 has also been found in the Cane Corso.

Gangliosidosis (GM2 Type II) – Poodle Type

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 and death. This buildup leads to worsening neurological damage and severe symptoms over time. Here we test for an autosomal recessive mutation in HEXB in the poodle. A related mutation of this gene is found in the Shiba Inu.

Alaskan Husky Encephalopathy (AHE)

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.

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