Brachial plexus neuropathy or neuritis in the dog and cat: A report of 4 spontaneous cases

One kitten and three adult dogs were admitted with a history of an acute or progressive lower motor neuron disease involving asymmetrically the thoracic limbs. Neurogenic muscular atrophy was also present affecting the relevant muscles in all the animals. As no other neuromuscular abnormalities could be detected on physical, radiological and clinicopathologic examination, a tentative diagnosis of brachial plexus neuropathy or neuritis was made. In the cat diagnosis was confirmed by electrophysiological testing demonstrating decreased sensory conduction velocity of the ulnar nerve and denervation potentials. The administration of prednisolone at antiinflammatory dosage for 3 weeks abolished or decreased the severity of the clinical signs in all the cases. Recurrence of the disease, one to 6 months after the cessation of treatment, was detected or reported for the 3 dogs where a follow-up was possible.

Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases. The exact cause for the observed clinical heterogeneity within the family is unknown. One explanation is that there are modifier genes that affect the phenotype. These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation.

Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report

We report the case of a 3-1/2-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzimes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.