Canine Myelin Disorders With Identified Gene Mutations
Canine Myelin Disorders With Identified Gene Mutations
Disease | Breeds | Gene Mutation |
|---|---|---|
Hypomyelination | Weimaraner, Chow Chow | FNIP2 (delay or failure in maturation of oligodendrocytes) |
Springer Spaniel | PLP (altered myelination of early myelinating structures) | |
Leukodystrophy | Standard Schnauzer | TSEN54 (defect in tRNA splicing endonuclease that leads to myelin destruction) |
Spongy degeneration | Labrador Retriever | GFAP (gain of function that leads to cytoskeletal collapse and protein aggregation) |
Leukoencephalomyelopathy | Rottweiler, Great Dane, Leonberger | NAPEPLD (lipid metabolism defect) |
Globoid cell leukodystrophy | Cairn Terrier, West Highland White Terrier, Irish Setter, Australian Kelpie | GALC (loss of function in galactosylceramidase that leads to storage disease) |
Peripheral neuropathy (Schwann cell defect) | Alaskan Malamute, Greyhound | NDRG1 (disruption of myelinating signal in Schwann cells) |
Polyneuropathy | Leonberger (LPN1),a Saint Bernard | ARHGEF10 (regulation of phosphorylation pathways in neural morphogenesis) |
Leonberger (LPN2)a | GJA9 (connexin dysfunction at gap junctions between folds of Schwann cell membranes) | |
Alaskan Malamute | NDRG1 (N-myc downstream-regulated gene) | |
Demyelinating neuropathy | Miniature Schnauzer | MTMR13 (neuropathy with myelin outfoldings) |
aLPN, Leonberger polyneuropathy. | ||