Thoracolumbar myelopathies in pug dogs.

BACKGROUND: Constrictive myelopathy (CM) involving a fibrous band around the spinal cord is a newly recognized disease in pug dogs. OBJECTIVES: To identify the frequency of CM based on diagnostic imaging supplemented with necropsy; to determine whether a relationship exists between the sites of CM and other described T3-L3 myelopathies; and to determine the frequency of caudal articular process dysplasia (CAPD). ANIMALS: Thirty-two client-owned pug dogs diagnosed with a chronic, progressive T3-L3 myelopathy based on neurological examination performed by a board-certified neurologist. METHODS: This is a prospective study. All dogs underwent computed tomography (CT) and magnetic resonance imaging (MRI) reviewed by a board-certified radiologist. Magnetic resonance imaging abnormalities were categorized into diseases; CM only, CM plus other non-CM condition(s), or non-CM condition. Sites of CAPD were reported on CT. Nineteen dogs underwent necropsy. RESULTS: Magnetic resonance imaging revealed 3 dogs with CM only, 17 with CM plus at least 1 other myelopathy, 11 dogs with non-CM myelopathies only, and 1 with no MRI abnormalities. Nineteen of 32 dogs had >1 myelopathy diagnosis on MRI whereas 15/32 had >1 site of spinal cord compression. All dogs had CAPD at >1 site in the T3-L3 vertebral column on CT. CONCLUSIONS AND CLINICAL IMPORTANCE: Constrictive myelopathy affected more than half of pug dogs presenting with chronic thoracolumbar myelopathies. Most had multilevel disease, concurrent myelopathies, or both. There was no apparent relationship between anatomic locations of CAPD and most severe myelopathy or myelopathy type.

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.

BACKGROUND: Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission that may be presynaptic, synaptic, or postsynaptic. Causative mutations have been identified in 4 breeds including the Labrador Retriever, Jack Russell Terrier, Heideterrier, and Danish Pointing Dog. HYPOTHESIS/OBJECTIVE: Clinical and genetic characterization of a neuromuscular disorder in Golden Retriever (GR) puppies. ANIMALS: Four GR puppies from California were evaluated for generalized muscle weakness beginning at weaning. Biological specimens were collected from the affected puppies, and familial information was obtained. Blood or buccal swabs were obtained from 63 unaffected GRs. METHODS: Complete physical, neurological, electrodiagnostic, and histological evaluations and biochemical quantification of muscle acetylcholine receptors were performed. Polymerase chain reaction was used to amplify the 17 exons of COLQ, and sequences were obtained by Sanger sequencing. Variant frequency was assessed in unrelated GRs and a public database. RESULTS: Clinical, neurological, and electrodiagnostic evaluations confirmed a disorder of neuromuscular transmission in a GR family. Sequencing of all exons and splice sites of a primary candidate gene, COLQ, identified a point mutation that predicts an amino acid substitution (G294R). The primary COLQ transcript was absent from affected muscle samples. All affected puppies were homozygous for the mutation, which was not detected outside this GR family or in other breeds. CONCLUSIONS AND CLINICAL IMPORTANCE: We confirmed the diagnosis of a CMS in GR puppies and identified a novel COLQ mutation. The COLQ gene encodes the collagenous tail of acetylcholinesterase, the enzyme responsible for termination of skeletal muscle contraction by clearing acetylcholine at the neuromuscular junction. Clinicians and breeders should be aware of this CMS in GR puppies with an early onset of weakness.