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Mitochondrially inherited sensory ataxic neuropathy in golden retriever dogs

phenotype, clinical course and genotype of a novel neurological syndrome

Hultin Jäderlund, Karin (2009). Mitochondrially inherited sensory ataxic neuropathy in golden retriever dogs. Diss. (sammanfattning/summary) Uppsala : Sveriges lantbruksuniv., Acta Universitatis Agriculturae Sueciae, 1652-6880 ; 2009:73
ISBN 978-91-576-7420-3
[Doctoral thesis]

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A novel neurological syndrome, mitochondrially inherited sensory ataxic neuropathy (SAN), was discovered in Golden Retriever dogs in Sweden. The purpose of the work described in the present thesis was to investigate the phenotype, clinical course and genotype of this syndrome by clinical, neurological and pathological examination of affected dogs, as well as to determine the mode of inheritance and identify the causative mutation. Mitochondrially inherited SAN in Golden Retriever dogs has an insidious onset during puppyhood. Affected dogs develop ataxia and dysmetria, with abnormal postural reactions and depressed spinal reflexes. The disease has a chronic, slowly progressive clinical course. Of the affected dogs investigated within the scope of this thesis, none became non-ambulatory or died spontaneously during the study period. However, about half of the affected dogs were euthanized because of neurological impairment before attaining 4 years of age. Post mortem examinations of affected dogs revealed degenerative changes in both the central and the peripheral nervous system. A chronic active central–peripheral axonopathy, neuroaxonal dystrophy-like alterations in spinal cord and brainstem, and a neuron-sparing encephalopathy with spongiosis in the basal nuclei were the most prominent findings. A maternal mode of inheritance was concluded from pedigree analysis, indicating a causative mutation in the mitochondrial DNA. Laboratory data confirmed that affected dogs had malfunctioning mitochondria. A single base-pair deletion in the mitochondrial tRNATyr gene was found and proven to be pathogenic. In summary, canine SAN is a slowly progressive neurodegenerative disease with onset in puppyhood. The disease is maternally inherited and is caused by a mutation in the mitochondrial tRNATyr gene.

Authors/Creators:Hultin Jäderlund, Karin
Title:Mitochondrially inherited sensory ataxic neuropathy in golden retriever dogs
Subtitle:phenotype, clinical course and genotype of a novel neurological syndrome
Series Name/Journal:Acta Universitatis Agriculturae Sueciae
Year of publishing :2009
Number of Pages:72
ALLI Hultin Jäderlund, K., Örvind, E., Johnsson, E., Matiasek, K., Hahn, C., Malm, S. & Hedhammar, Å. (2007). A Neurologic Syndrome in Golden Retrievers Presenting as a Sensory Ataxic Neuropathy. Journal of Veterinary Internal Medicine 21, 1307-15. II Baranowska, I., Hultin Jäderlund, K., Nennesmo, I., Holmqvist, E., Heidrich, N., Larsson, N.-G., Andersson, G., Wagner, E. G. H., Hedhammar, Å., Wibom, R. & Andersson, L. (2009). Sensory Ataxic Neuropathy in Golden Retriever Dogs is Caused by a Deletion in the Mitochondrial tRNATyr Gene. PLoS Genetics 5(5): e1000499. doi:10.1371/journal.pgen.1000499 III Hultin Jäderlund, K., Baranowska, I., Hedhammar, Å. & Matiasek, K. Neuropathological features in Golden Retriever dogs with a mutation in the mitochondrial tRNATyr gene. (manuscript) IV Hultin Jäderlund, K., Baranowska, I., Örvind, E., Matiasek, K., Johnsson, E., Egenvall, A. & Hedhammar, Å. Follow-up study of dogs carrying the mutation for mitochondrially inherited sensory ataxic neuropathy. (manuscript)
Place of Publication:Uppsala
Publisher:Dept of Clinical Sciences, Swedish University of Agricultural Sciences
Associated Programs and Other Stakeholders:SLU - Research Areas for the Future > Future Animal Health and Welfare (until Jan 2017)
ISBN for printed version:978-91-576-7420-3
Publication Type:Doctoral thesis
Full Text Status:Public
Agrovoc terms:dogs, ataxin, axonopus, encephalopathy, mitochondrail genetics, sensory disorders, nervous system disorders
Keywords:ataxia, axonopathy, dog, encephalomyelopathy, Golden Retriever, hyporeflexia, inherited, mitochondrial, mtDNA-mutation, neurodegeneration
Permanent URL:
ID Code:2161
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Clinical Sciences
Deposited By: Karin Hultin Jäderlund
Deposited On:17 Nov 2009 00:00
Metadata Last Modified:02 Dec 2014 10:16

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