Merck Manual

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Canine Myelin Disorders With Identified Gene Mutations

Canine Myelin Disorders With Identified Gene Mutations



Gene Mutation


Weimaraner, Chow Chow

FNIP2 (delay or failure in maturation of oligodendrocytes)

Springer Spaniel

PLP (altered myelination of early myelinating structures)


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)


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)


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.