Background The imaging and electrodiagnostic (EDX) characteristics of traumatic brachial plexus injury (TBPI) are incompletely reported. Objectives To describe the epidemiological, clinical, and EDX characteristics of TBPIs in a series of cases in dogs and cats; to determine the association between clinical data, EDX findings, and clinical outcomes; and to assess the sensitivity and specificity of EDX studies to classify nerve lesions. Animals One hundred and seventy‐five dogs and 51 cats with TBPI and EDX exploration of radial nerve, ulnar nerve, or both nerves. Methods Retrospective case series. All medical records were searched for dogs and cats presenting with TBPIs that underwent EDX exploration. Epidemiological, clinical, EDX, and follow‐up data were extracted. Association between clinical data, EDX findings, and clinical outcomes was explored. Results Forty‐six percent of affected animals were injured before 2 years of age and 57% of dogs weighed more than 20 kg. The radial compound muscle action potential (CMAP) amplitude for dogs and cats that had clinical improvement was higher than in animals without improvement (4.3 mV [0‐23.6] vs 0 mV [0‐2.4], respectively, P = .02). A discriminating radial CMAP amplitude threshold value of 5 mV had a specificity of 93% (95% CI [80‐100]) to predict recovery. Conclusions and Clinical Importance Electrodiagnostic studies, particularly measurement of radial CMAP amplitude, are valuable diagnostic tests to refine the prognosis of these animals.
Hereditary ataxias are common among canine breeds with various molecular etiology. We identified a hereditary ataxia in young‐adult Australian Shepherd dogs characterized by uncoordinated movements and spasticity, worsening progressively and leading to inability to walk. Pedigree analysis suggested an autosomal recessive transmission. By whole genome sequencing and variant filtering of an affected dog we identified a PNPLA8:c.1169_1170dupTT variant. This variant, located in PNPLA8 (Patatin Like Phospholipase Domain Containing 8), was predicted to induce a PNPLA8:p.(His391PhefsTer394) frameshift, leading to a premature stop codon in the protein. The truncated protein was predicted to lack the functional patatin catalytic domain of PNPLA8, a calcium‐independent phospholipase. PNPLA8 is known to be essential for maintaining mitochondrial energy production through tailoring mitochondrial membrane lipid metabolism and composition. The Australian Shepherd ataxia shares molecular and clinical features with Weaver syndrome in cattle and the mitochondrial‐related neurodegeneration associated with PNPLA8 loss‐of‐function variants in humans. By genotyping a cohort of 85 control Australian Shepherd dogs sampled in France, we found a 4.7% carrier frequency. The PNPLA8:c.[1169_1170dupTT] allele is easily detectable with a genetic test to avoid at‐risk matings.
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