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Degenerative Myelopathy Exon 2 (DM Exon 2) (External Patent Lab)

Canine degenerative myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterised by progressive loss of neurons in the central nervous system (CNS) which leads to deficiencies in function. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination). DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

This variant of the disease, sometimes designated as SOD1B or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is caused by a recessive mutation to the gene SOD1.

Degenerative Myelopathy Exon 2 (DM Exon 2)

Canine degenerative myelopathy (DM) is an incurable progressive neurodegenerative disease of the spinal cord. Neurodegenerative diseases are characterised by progressive loss of neurons in the central nervous system (CNS) which leads to deficiencies in function. In the case of DM, the affected region is the spinal cord, which results in ataxia (a loss of coordination). DM is similar in many ways to Amyotrophic Lateral Sclerosis (ALS) in humans.

This variant of the disease, sometimes designated as SOD1B or as Degenerative Myelopathy Exon 2, occurs in many different breeds. It is caused by a recessive mutation to the gene SOD1. A related variant specific to the Bernese Mountain Dog has also been observed. When testing a Bernese Mountain Dog for DM, it is important to test for both of these variants, as opposed to only one.

Hereditary Necrotizing Myelopathy (HNM)

Hereditary Necrotising Myelopathy (HNM) is a degenerative neural disease that causes difficulty standing, walking and eating. The disorder is found in the Dutch Kooiker and is caused by a recessive mutation to the gene IBA57.

Leukoencephalomyelopathy – LEMP (Leonberger)

Leukoencephalomyelopathy (LEMP) is a severe, degenerative neural disorder that occurs in young dogs and causes a progressive loss of muscle coordination. The disorder is caused by a recessive mutation to the gene NAPEPLD. The variant of LEMP analysed in this test occurs in the Leonberger. A related variant is found in the Great Dane and Rottweiler.

Leukoencephalomyelopathy – LEMP

Leukoencephalomyeolopathy (LEMP) is a neurological disease that affects the central nervous system, affecting coordination and gait. The variant of the disease in this test occurs in the Great Dane and Rottweiler, and is caused by a recessive mutation to the gene LEMP. Another variant has been observed in the Leonberger.

Leukodystrophy

Canine Spongiform Leukoencephalomyelopathy (SLEM), also known as simply Leukodystrophy, is a severe degenerative neurological disease that causes weakness, paralysis and spastic movement. The disorder is caused by a mitochondrial mutation to the gene CYTB, and is found in the Australian Cattle Dog and the Shetland Sheepdog.

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.

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.

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.

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) – 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, 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.

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.

Neuroaxonal Dystrophy (NAD) – Spanish Water Dog

Neuroaxonal dystrophy (NAD) is a neurodegenerative pathology of the central and/or peripheral nervous system characterised by local swellings (spheroids) and atrophy of axons. Besides presenting as a primary central nervous system disorder, NAD findings may occur associated with aging and secondary to several metabolic-toxic conditions.

Neuronal Ceroid Lipofuscinosis 12 (NCL12) – Tibetan Terrier

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 12 (NCL12), is caused by a recessive mutation to the gene ATP13A2. It is found in the Tibetan Terrier. A related variant is also found in the Australian Cattle Dog.

Neuronal Ceroid Lipofuscinosis 10 (NCL10) – American Bulldog

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 10 (NCL10), is caused by a recessive mutation to the gene CTSD. It is found in the Amerian Bulldog.

Neuroaxonal Dystrophy (NAD), MFN2-related

Neuroaxonal Dystrophy (NAD) is a degenerative neural disease that causes nerve damage, loss of motor function and paralysis. This lethal variant of the disease, known as Fetal-Onset Neuroaxonal Dystrophy (FNAD), was first observed in a Schnauzer and Beagle cross. It is caused by a recessive mutation to the gene MFN2.

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.

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