Re-emergence of hereditary polyneuropathy in scandinavian alaskan malamute dogs-old enemy or new entity? A case series

TY - JOUR

T1 - Re-emergence of hereditary polyneuropathy in scandinavian alaskan malamute dogs-old enemy or new entity? A case series

AU - Jäderlund, Karin Hultin

AU - Rohdin, Cecilia

AU - Berendt, Mette

AU - Stigen, Øyvind

AU - Fredholm, Merete

AU - Espenes, Arild

AU - Bjerkås, Inge

AU - Moe, Lars

PY - 2017

Y1 - 2017

N2 - A homozygous mutation has been identified in the N-myc downstream-regulated gene 1 (NDRG1) in recent cases of polyneuropathy in Alaskan malamute dogs from the Nordic countries and USA. The objective of the present study was to determine if cases diagnosed 30-40 years ago with polyneuropathy in the Alaskan malamute breed in Norway had the same hereditary disease as the recent cases. Fourteen historical cases and 12 recently diagnosed Alaskan malamute dogs with hereditary polyneuropathy, and their parents and littermates (n = 88) were included in this study (total n = 114). After phenotyping of historical and recent cases, NDRG1 genotyping was performed using DNA extracted from archived material from five Norwegian dogs affected by the disease in the late 1970s and 1980s. In addition, pedigrees were analysed. Our study concluded that historical and recent phenotypic polyneuropathy cases were carrying the same NDRG1-mutation. The pedigree analysis showed that all affected Alaskan malamute cases with polyneuropathy could be traced back to one common ancestor of North American origin. By this study, a well-documented example of the silent transmission of recessive disease-causing alleles through many generations is provided, demonstrated by the re-emergence of a phenotypically and genetically uniform entity in the Scandinavian Alaskan malamute population.

AB - A homozygous mutation has been identified in the N-myc downstream-regulated gene 1 (NDRG1) in recent cases of polyneuropathy in Alaskan malamute dogs from the Nordic countries and USA. The objective of the present study was to determine if cases diagnosed 30-40 years ago with polyneuropathy in the Alaskan malamute breed in Norway had the same hereditary disease as the recent cases. Fourteen historical cases and 12 recently diagnosed Alaskan malamute dogs with hereditary polyneuropathy, and their parents and littermates (n = 88) were included in this study (total n = 114). After phenotyping of historical and recent cases, NDRG1 genotyping was performed using DNA extracted from archived material from five Norwegian dogs affected by the disease in the late 1970s and 1980s. In addition, pedigrees were analysed. Our study concluded that historical and recent phenotypic polyneuropathy cases were carrying the same NDRG1-mutation. The pedigree analysis showed that all affected Alaskan malamute cases with polyneuropathy could be traced back to one common ancestor of North American origin. By this study, a well-documented example of the silent transmission of recessive disease-causing alleles through many generations is provided, demonstrated by the re-emergence of a phenotypically and genetically uniform entity in the Scandinavian Alaskan malamute population.

KW - Dog

KW - Inherited

KW - Mutation

KW - NDRG1-gene

KW - Polyneuropathy

KW - Recessive

U2 - 10.1186/s13028-017-0295-y

DO - 10.1186/s13028-017-0295-y

M3 - Journal article

C2 - 28464941

AN - SCOPUS:85018999022

SN - 0044-605X

VL - 59

JO - Acta Veterinaria Scandinavica

JF - Acta Veterinaria Scandinavica

IS - 1

M1 - 26

ER -