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Case summary A 2-year-old female intact domestic shorthair cat was referred to the neurology service at the Foster Hospital for Small Animals as a result of lifelong weakness, seizure-like episodes after excitement, muscle spasms, stiffness of the limbs and shortness of breath. A diagnosis of myotonia congenita (MC) was made based on compatible history, clinical signs and electromyography findings, and excluding other causes of muscle weakness using muscle biopsy, baseline bloodwork and echocardiography. Initial treatment with procainamide had overall low efficacy. The cat was then switched to carbamazepine, which provided long-term improvement in clinical signs at a dosage of 7.4 mg/kg PO q12h with no observed clinical side effects. Relevance and novel information To date, there is only a single case report describing the successful treatment of MC in cats, and no report describing the use of carbamazepine to treat this condition in this species. This anti-convulsant medication was shown to be anecdotally effective in the case reported. Further research is needed to categorize the metabolism, pharmacokinetics, tolerance, dose range and efficacy of carbamazepine in cats with and without MC.

Oligonucleotide therapeutics offer great promise in the treatment of previously untreatable neurodegenerative disorders; however, there are some challenges to overcome in pre-clinical studies. (1) They carry a well-established dose-related acute neurotoxicity at the time of administration. (2) Repeated administration into the cerebrospinal fluid may be required for long-term therapeutic effect. Modifying oligonucleotide formulation has been postulated to prevent acute toxicity, but a sensitive and quantitative way to track seizure activity in pre-clinical studies is lacking. The use of intracerebroventricular (i.c.v.) catheters offers a solution for repeated dosing; however, fixation techniques in large animal models are not standardized and are not reliable. Here we describe a novel surgical technique in a sheep model for i.c.v. delivery of neurotherapeutics based on the fixation of the i.c.v. catheter with a 3D-printed anchorage system composed of plastic and ceramic parts, compatible with magnetic resonance imaging, computed tomography, and electroencephalography (EEG). Our technique allowed tracking electrical brain activity in awake animals via EEG and video recording during and for the 24-h period after administration of a novel oligonucleotide in sheep. Its anchoring efficiency was demonstrated for at least 2 months and will be tested for up to a year in ongoing studies.