H673 Degenerative Myelopathy, DM - Page 2 of 2

Gangliosidosis (GM2 Type II) – Poodle Type

Gangliosidosis (GM2, O-variant, type 2) is a fatal, progressive neurodegenerative lysosomal storage disease caused by a deficiency of β-hexosaminidase. The enzyme is composed of a dimer of two subunits α and β encoded by genes HEXA and HEXB. GM2 gangliosidosis can be caused by defects in the genes HEXA (Tays–Sachs disease, B-variant; where only the isoform A is deficient), HEXB (Sandhoff disease, O-variant; where both isoforms are involved). Mutations within the variants of β-hexosaminidase allow a build-up of toxic substances in the nerve cells (mainly neurons). An autosomal recessive mutation in HEXB is observed in the poodle. A related mutation of this gene is found in the Shiba Inu.

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.

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 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.

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 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.

Neuronal Ceroid Lipofusconisis 4A (NCL 4A) – American Staffordshire Terrier

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.

Neuroaxonal Dystrophy (NAD) – Rottweiler

Canine neuroaxonal dystrophy (NAD) is a degenerative, recessive neurological disease of young adult Rottweiler dogs. The disease is characterised by targeting sensory axon terminals by axonal spheroids, whereby axonal swellings occur in the central or peripheral nervous system. The neurological disorder is caused by a missense mutation within the Vacuolar Protein Sorting 11 (VPS11).

Neuroaxonal Dystrophy (NAD) – Papillon

Neuroaxonal Dystrophy (NAD) is a severe, degenerative neurological disease that causes a loss of muscle coordination and damages the senses. The disorder occurs in the Papillon, and is caused by a recessive mutation to the gene PLA2G6.

Gangliosidosis (GM1) – All Breeds

Gangliosidosis (GM1) is a fatal neurodegenerative disease. The lysosomal enzyme β-D-galactosidase cleaves terminal galactose residues from a variety of molecules. Due to a mutation the enzyme cannot be produced properly anymore, which leads to an accumulation of GM1 gangliosides (a type of glycolipid) in various tissues.

Hereditary Ataxia – Australian Shepherd

Progressive Degenerative Myeloencephalopathy is a form of hereditary ataxia, a severe neural disorder that causes loss of coordination, muscle weakness and sensory problems. Occurring in the Australian Shepherd, the disorder is caused by a recessive mutation to the gene PNPLA8. The disease is progressive, and may require euthanasia due to increasingly poor quality of life.

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 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 12 (NCL 12) – Australian Cattle Dog

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 Australian Cattle Dog, is known as Neuronal Ceroid Lipofuscinosis 12 (NCL12), and is caused by a recessive mutation to the gene ATP13A2. A related variant also occurs in the Tibetan Terrier.

Neuronal Ceroid Lipofuscinosis 7 (NCL 7)

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, known as Neuronal Ceroid Lipofuscinosis 7 (NCL 7) is caused by a recessive mutation to the gene MFSD8, and occurs in the Chinese Crested Dog and Chihuahua.

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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