Open AccessGenetic insights in canine degenerative myelopathy
Author(s) -
Fréderique Boeykens,
Luc Peelman,
Sofie Bhatti,
Bart Broeckx
Publication year - 2020
Publication title -
vlaams dierengeneeskundig tijdschrift
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.176
H-Index - 18
ISSN - 0303-9021
DOI - 10.21825/vdt.v89i5.16951
Subject(s) - sod1 , amyotrophic lateral sclerosis , medicine , disease , myelopathy , ataxia , spinal cord , motor neuron , pathology , degenerative disease , neuroscience , biology , psychiatry
Canine degenerative myelopathy (DM) is a late-onset, progressive, neurodegenerative disorder with a fatal outcome, occurring in a vast number of dog breeds. Most dogs are at least eight years of age when they begin to show clinical signs, starting with general proprioceptive ataxia in the hind limbs and upper motor neuron paraparesis, evolving to lower motor neuron tetraplegia and brain stem signs. A definitive diagnosis can only be made postmortem by the histopathological observation of neuronal degradation and demyelination of the spinal cord. Most DM-affected dogs are homozygous for one of the known superoxide dismutase 1 gene (SOD1) mutations (ENSCAFT65394.1:c.82G>A, first described as NM_001003035.1:c.118G>A). A second mutation (NM_001003035.1:c.52A>T) in the same gene has been found but occurs only in Bernese mountain dogs. Not every homozygous dog develops the disease; this indicates that the disease is incompletely penetrant and that modifier loci might be present. In this review, the authors aim to give an overview of the disease progression and the current genetic knowledge of DM, which is of paramount importance for the correct diagnosis and to help reduce the disease incidence.