title: Degenerative Encephalopathy in Nova Scotia Duck Tolling Retrievers Presenting with a Rapid Eye Movement Sleep Behavior Disorder.
abstract: BACKGROUND
  Neurodegenerative diseases are a heterogeneous group of disorders characterized by loss of neurons and are commonly associated with a genetic mutation.
  
  
  OBJECTIVE
  To characterize the clinical and histopathological features of a novel degenerative neurological disease affecting the brain of young adult Nova Scotia Duck Tolling Retrievers (NSDTRs).
  
  
  METHODS
  Nine, young adult, related NSDTRs were evaluated for neurological dysfunction and rapid eye movement sleep behavior disorder.
  
  
  METHODS
  Case series review.
  
  
  RESULTS
  Clinical signs of neurological dysfunction began between 2 months and 5 years of age and were progressive in nature. They were characterized by episodes of marked movements during sleep, increased anxiety, noise phobia, and gait abnormalities. Magnetic resonance imaging documented symmetrical, progressively increasing, T2-weighted image intensity, predominantly within the caudate nuclei, consistent with necrosis secondary to gray matter degeneration. Abnormalities were not detected on clinicopathological analysis of blood and cerebrospinal fluid, infectious disease screening or urine metabolite screening in most cases. Postmortem examination of brain tissue identified symmetrical malacia of the caudate nuclei and axonal dystrophy within the brainstem and spinal cord. Genealogical analysis supports an autosomal recessive mode of inheritance.
  
  
  CONCLUSIONS
  A degenerative encephalopathy was identified in young adult NSDTRs consistent with a hereditary disease. The prognosis is guarded due to the progressive nature of the disease, which is minimally responsive to empirical treatment.
authors.affiliation: School of Veterinary Sciences, University of Bristol, Langford, UK. emi.barker@bristol.ac.uk.
authors.forename: E N
authors.initials: EN
authors.lastname: Barker
authors.affiliation: IDEXX Laboratories Ltd Wetherby, West Yorkshire, UK.
authors.forename: L J
authors.initials: LJ
authors.lastname: Dawson
authors.affiliation: School of Veterinary Sciences, University of Bristol, Langford, UK.
authors.forename: J H
authors.initials: JH
authors.lastname: Rose
authors.affiliation: AniCura Läckeby Djursjukhus, Läckeby, Sweden.
authors.forename: S
authors.initials: S
authors.lastname: Van Meervenne
authors.affiliation: Herrgårdskliniken, Aneby, Sweden.
authors.forename: O
authors.initials: O
authors.lastname: Frykman
authors.affiliation: Department of Clinical Sciences, Swedish University of Agricultural Science, Uppsala, Sweden.|Anicura, Albano Small Animal Hospital, Danderyd, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Rohdin
authors.affiliation: Department of Biomedical Sciences and Veterinary Public Health, Section of Pathology, Swedish University of Agricultural Sciences, Uppsala, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Leijon
authors.affiliation: Department of Pathology and Wildlife Diseases, National Veterinary Institute (SVA), Uppsala, Sweden.
authors.forename: K E
authors.initials: KE
authors.lastname: Soerensen
authors.affiliation: Norwegian Institute for Nature Research, Trondheim, Norway.
authors.forename: J
authors.initials: J
authors.lastname: Järnegren
authors.affiliation: Department of Veterinary Medicine & Surgery, University of Missouri, Columbia, MO.
authors.forename: G C
authors.initials: GC
authors.lastname: Johnson
authors.affiliation: Department of Veterinary Medicine & Surgery, University of Missouri, Columbia, MO.
authors.forename: D P
authors.initials: DP
authors.lastname: O'Brien
authors.affiliation: School of Veterinary Sciences, University of Bristol, Langford, UK.
authors.forename: N
authors.initials: N
authors.lastname: Granger
mesh_terms: D000818:Animals; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D004283:Dog Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004285:Dogs; D005260:Female; D020022:Genetic Predisposition to Disease; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis / Q000473:pathology / Q000662:veterinary*; D008297:Male; D010375:Pedigree; D020187:REM Sleep Behavior Disorder / Q000235:genetics / Q000473:pathology / Q000662:veterinary*
keywords: Axonopathy; Basal nuclei; Behavioral changes; Familial