title: Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers.
abstract: To describe the development of clinical signs (CS) and outcome of L-2-hydroxyglutaric aciduria (L-2-HGA), owners of 119 Staffordshire bull terriers positive for the known L-2-hydroxyglutarate dehydrogenase autosomal-recessive mutations were requested to complete a questionnaire regarding their pet's CS. Questionnaires were returned for 27 dogs, all with neurological abnormalities-not all questions were answered in all cases. The mean age of CS onset was 12 months (range 2.5-60). Gait dysfunction was reported in 26/26 dogs, with stiffness of all four limbs the most common (24/26) and earliest recognised abnormality. Kyphosis (19/26), body and/or head tremors (19/26) and hypermetria (15/26) were frequent. Behavioural changes were present in 24/27 dogs; most commonly staring into space (21/24), signs of dementia (17/24) and loss of training (15/24). Eighteen dogs demonstrated paroxysmal seizure-like/dyskinetic episodes. Nineteen (70 per cent) dogs were alive at a mean survival time of 76.6 months (12-170) after onset of CS. L-2-HGA was the cause of euthanasia in six dogs. Euthanasia occurred at a mean survival time of 44 months (8.5-93) after onset of CS, with 2/8 dogs euthanased within 12 months. L-2-HGA is considered a progressive neurological disease; however, CS can be successfully managed with affected dogs potentially living a normal lifespan.
authors.affiliation: Neurology/Neurosurgery Service, Centre for Small Animal Studies, The Animal Health Trust, Newmarket, UK.
authors.forename: A
authors.initials: A
authors.lastname: Shea
authors.affiliation: Neurology/Neurosurgery Service, Centre for Small Animal Studies, The Animal Health Trust, Newmarket, UK.
authors.forename: L
authors.initials: L
authors.lastname: De Risio
authors.affiliation: Tay Valley Veterinary Centre, Perth, Scotland.
authors.forename: H
authors.initials: H
authors.lastname: Carruthers
authors.affiliation: One Health Institute, School of Veterinary Medicine, University of California, Davis, California, USA.
authors.forename: A
authors.initials: A
authors.lastname: Ekiri
authors.affiliation: Neurology/Neurosurgery Service, Queen Mother Hospital for Animals, Royal Veterinary College, Potter's Bar, UK.
authors.forename: E
authors.initials: E
authors.lastname: Beltran
mesh_terms: D017668:Age of Onset; D000818:Animals; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000473:pathology / Q000628:therapy / Q000662:veterinary*; D015331:Cohort Studies; D018450:Disease Progression; D004283:Dog Diseases / Q000175:diagnosis* / Q000473:pathology* / Q000628:therapy; D004285:Dogs; D012720:Severity of Illness Index; D013045:Species Specificity; D016019:Survival Analysis; D016896:Treatment Outcome
keywords: Dogs; L-2-hydroxyglutaric aciduria; Metabolic diseases; Neurology