Table 1. Naturally occurring genetic diseases of the canine CNS1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15.
| Disease | Gene | Dog breeds affected |
|---|---|---|
| Amyotrophic lateral sclerosis | SOD1 | Boxer, German shepherd, Chesapeake Bay retriever, Standard poodle, Rhodesian ridgeback, Pembroke and Cardigan Welsh corgi, Bernese mountain, American eskimo, Golden retriever, Great Pyrenese, Kerry blue terrier, Pug, Shetland sheep dog, soft-coated Wheaton terrier, Wire fox terrier |
| Cerebellar ataxia | SEL1L SPTBN2 | Finnish hound beagle |
| Juvenile epilepsy | LGI2 | Lagotto Romagnolo |
| L-2-hydroxyglutaric aciduria | L2HGDH | Staffordshire bull terriers, Yorkshire terrier |
| Lysosomal storage diseases | ||
| Ceroid lipofuscinosis | CTSD CLN1 (PPT1) CLN2 (TPP1) CLN5 CLN6 CLN8 ARSG (NCL-A4) ATP13A2 | American bulldogs Dachshund Dachshund Border collie Australian shepherd English/Irish setter American Staffordshire terriers Tibetan terrier |
| Fucosidosis | FUCA-1 | English springer spaniel |
| Globoid cell leukodystrophy (Krabbe disease) | GALC | Cairn terrier dog, West Highland white terrier, Beagle, Blue tick hound, Irish setter, Australian Kelpie |
| Galactosialidosis | CTSA | Schipperke |
| Glucocerebrosidosis (Gaucher disease) | GBA | Sydney silky terrier |
| Glycogenosis type 1a | G6PC | Maltese dog |
| Glycogen storage disease II (Pompe Disease) | GAA | Lapland dog |
| Glycogenosis type IIIa | AGL | Curly-coated retriever |
| GM1 gangliosidosis | GLB1 | Beagle mixbreed, Shiba inu, Springer spaniel, Portuguese water dog, English springer spaniel, Siberian husky |
| GM2 gangliosidosis (Tay–Sachs disease) | HEX-A | German short-haired pointer |
| GM2 gangliosidosis (Sandhoff disease) | HEX-B | Toy poodle, Japanese spaniel, Golden retriever, Silky terrier |
| Mucopolysaccharidosis I (Hurler, Scheie and Hurler/Scheie) | IDUA | Plotthound, Rottweiler, Afghan |
| Mucopolysaccharidosis II (Hunter syndrome) | IDS | Labrador retriever |
| Mucopolysaccharidosis III A (Sanfilippo A syndrome) | SGSH | Wire-haired dachshund, New Zealand huntaway |
| Mucopolysaccharidosis III B (Sanfilippo B syndrome) | NAGLU | Schipperke |
| Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome) | ARSB | Miniature pinscher, Welsh corgi, miniature schnauzer, Chesapeake Bay retriever, Miniature poodle |
| Mucopolysaccharidosis VII (Sly disease) | GUSB | German shepherd, Brazilian terrier |
| Neuronal glycoproteinosis (Myoclonic epilepsy of Lafora) | EPM2B (NHLRC1) | Bassett hound, Beagle, Poodle, Wire-haired miniature dachshund |
| Sphingomyelinosis A and B (Niemann-Pick A and B diseases) | SMPD1 | Miniature poodle |
| Narcolepsy | HCRTR2 | Dachshund, Labrador retriever, Doberman |
| Neonatal cerebellar ataxia (Bandera's syndrome) | GRM1 | Coton de Tulear |
| Neonatal encephalopathy | ATF2 | Standard poodle |
| Neuroaxonal dystrophy | MFN2 | Giant schnauzer |
| Pelizaeus–Merzbacher | PLP | Springer spaniel |
| Spongiform leukoencephalomyelopathy | mtDNA | Australian cattle dogs, Shetland sheep dogs |
| Thiamine deficiency encephalopathy | SLC19A3 | Alaskan husky |
Abbreviation: CNS, central nervous system.