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Some Devon Rex and Sphynx cats have a variably progressive myopathy characterized by appendicular and axial muscle weakness, megaesophagus, pharyngeal weakness and fatigability with exercise. Muscle biopsies from affected cats demonstrated variable pathological changes ranging from dystrophic features to minimal abnormalities. Affected cats have exacerbation of weakness following anticholinesterase dosing, a clue that there is an underlying congenital myasthenic syndrome (CMS). A genome-wide association study and whole-genome sequencing suggested a causal variant for this entity was a c.1190G>A variant causing a cysteine to tyrosine substitution (p.Cys397Tyr) within the C-terminal domain of collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ). Alpha-dystroglycan expression, which is associated with COLQ anchorage at the motor end-plate, has been shown to be deficient in affected cats. Eighteen affected cats were identified by genotyping, including cats from the original clinical descriptions in 1993 and subsequent publications. Eight Devon Rex and one Sphynx not associated with the study were identified as carriers, suggesting an allele frequency of ~2.0% in Devon Rex. Over 350 tested cats from other breeds did not have the variant. Characteristic clinical features and variant presence in all affected cats suggest a model for COLQ CMS. The association between the COLQ variant and this CMS affords clinicians the opportunity to confirm diagnosis via genetic testing and permits owners and breeders to identify carriers in the population. Moreover, accurate diagnosis increases available therapeutic options for affected cats based on an understanding of the pathophysiology and experience from human CMS associated with COLQ variants., (© 2015 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.)

Objective: To compare clinical features of cryptococcosis among cats and dogs in California, determine whether the distribution of involved tissues differs from distribution reported previously in a study in southeastern Australia, and identify Cryptococcus spp isolated from the study population., Design: Retrospective case series., Animals: 62 cats and 31 dogs with cryptococcosis., Procedures: Medical records of cats and dogs with cryptococcosis were reviewed. Information collected included geographic location, species, signalment, and tissues or organs involved. Cryptococcosis was confirmed via serology, cytology, histology, or microbial culture, and molecular typing was performed. Odds ratios and 95% confidence intervals were calculated to determine significant associations among variables. Other comparisons were evaluated via χ(2) or unpaired t tests., Results: American Cocker Spaniels were overrepresented, compared with other dog breeds. Serum cryptococcal antigen test results were positive in 51 of 53 cats and 15 of 18 dogs tested. Cryptococcus gattii was more commonly detected in cats (7/9 for which species identification was performed), and Cryptococcus neoformans was more commonly detected in dogs (6/8). Six of 7 C gattii isolates from cats were molecular type VGIII. Distribution of involved tissues was different between cats and dogs in California and between populations of the present study and those of the previously reported Australian study., Conclusions and Clinical Relevance: Strains of Cryptococcus spp appeared to have host specificity in dogs and cats. Differences in lesion distribution between geographic locations may reflect strain differences or referral bias. Antigen assays alone may not be sufficient for diagnosis of cryptococcosis in cats and dogs.

Congenital anomalies of the spine are common in small animals. The type of deformity, location, severity, time of onset of associated clinical signs, and progression of neurologic dysfunction varies widely. To promote clearer understanding, the authors present the various spinal malformations using modified human classification schemes and use current widely accepted definitions and terminology. The diagnostic approach, including utilization of advanced imaging, and surgical management is emphasized., (Copyright 2010. Published by Elsevier Inc.)

Many types of inclusions have been described in human myopathies including but not limited to nemaline rod bodies, cylindrical spirals, tubular aggregates, cytoplasmic bodies, reducing bodies, and fingerprint bodies, and hyaline inclusions in myofibrillar myopathy and inclusion body myositis. There are very few reports describing inclusions in spontaneously occurring myopathies in cats, and these reports are limited to nemaline rod myopathy. A myopathy with tubulin-reactive crystalline inclusions has recently been reported in a human patient with a clinical presentation of myalgia and fatigue. Similarly, a myopathy with chronic, slowly progressive muscle weakness has been identified here in two unrelated cats. Inclusions were the only pathological change in skeletal muscle biopsies and, ultrastructurally, groups of crystalline structures were evident that had a subsarcolemmal or central location, rhomboid or rectangular shapes, lacked orientation, and were not membrane bound. The crystalline structures reacted positively with an antibody against tubulin. This feline myopathy may be the equivalent of the human myopathy with tubulin-positive crystalline inclusions.

Brainstem dysfunction resulting from central extension of infection is a life-threatening complication of otitis media/interna (OMI) that has been described infrequently in dogs and cats. We review the clinical signs of disease, diagnostic findings, and results of surgical and medical treatments of brainstem disease attributable to otogenic intracranial infection in cats and dogs. Eleven cats and 4 dogs were examined because of acute, subacute, or chronic clinical signs of brain disease including central vestibular signs, altered mentation, abnormal posture/gait, cranial nerve deficits, and seizures. Results of a minimal database (CBC, serum biochemical panel, urinalysis, thoracic radiographs, and abdominal ultrasonographic images or radiographs) were within reference intervals in all animals. Magnetic resonance (MR) images of the head were acquired for all animals, and cisternal cerebrospinal fluid (CSF) from 9 of 11 cats and 3 of 4 dogs was examined. Surgical exploration and ventral bulla osteotomy were done for 12 of 15 animals, followed by 1-3 months of antibiotic therapy; the remaining animals were euthanized before treatment. In all animals, MR imaging was effective in characterizing the location and extent of the pathologic changes intracranially as well as within middle/inner ear structures. Results of CSF analysis were characteristic of bacterial infection in most of the animals with acute or subacute disease. Since long-term outcome in all treated animals was very good to excellent, it was concluded that dogs and cats with intracranial disease secondary to extension of otitis media/interna have a good-to-excellent prognosis when the condition was diagnosed and was treated by surgical exploration and appropriate antibiotic therapy.