A form of hereditary cerebellar ataxia has recently been described in the Norwegian Buhund dog breed. This study aimed to identify the genetic cause of the disease. Whole-genome sequencing of two Norwegian Buhund siblings diagnosed with progressive cerebellar ataxia was carried out, and sequences...
Author(s)
Jenkins, C. A.; Kalmar, L.; Matiasek, K.; Mari, L.; Kyöstilä, K.; Lohi, H.; Schofield, E. C.; Mellersh, C. S.; Risio, L. de; Ricketts, S. L.
Publisher
Public Library of Sciences (PLoS), San Francisco, USA
Citation
PLoS Genetics, 2020, 16, 1,
Hereditary ataxias are common among canine breeds with various molecular etiology. We identified a hereditary ataxia in young-adult Australian Shepherd dogs characterized by uncoordinated movements and spasticity, worsening progressively and leading to inability to walk. Pedigree analysis suggested ...
Author(s)
Abitbol, M.; Jagannathan, V.; Laurent, N.; Noblet, E.; Dutil, G. F.; Troupel, T.; Citres, C. de D. de; Gache, V.; Blot, S.; Escriou, C.; Leeb, T.
Publisher
Wiley, Oxford, UK
Citation
Animal Genetics, 2022, 53, 5, pp 709-712
The purpose of the current review is to summarize data regarding hereditary myelopathies in dogs. Canine degenerative myelopathy (DM) is a progressive disease prevalent in senior (≥8 years old), large breed-dogs, predominating in German shepherd dog. Neurolocalization indicates a thoracolumbar,...
Author(s)
Baka, R.; Polizopoulou, Z.
Publisher
Hellenic Veterinary Medical Society, Athens, Greece
Citation
Journal of the Hellenic Veterinary Medical Society, 2021, 72, 1, pp 2583-2594
Old English Sheepdogs and Gordon Setters suffer from a juvenile onset, autosomal recessive form of canine hereditary ataxia primarily affecting the Purkinje neuron of the cerebellar cortex. The clinical and histological characteristics are analogous to hereditary ataxias in humans. Linkage and...
Author(s)
Agler, C.; Nielsen, D. M.; Urkasemsin, G.; Singleton, A.; Tonomura, N.; Sigurdsson, S.; Tang, R. Q.; Linder, K.; Arepalli, S.; Hernandez, D.; Lindblad-Toh, K.; Leemput, J. van de; Motsinger-Reif, A.; O'Brien, D. P.; Bell, J.; Harris, T.; Steinberg, S.; Olby, N. J.
Publisher
Public Library of Sciences (PLoS), San Francisco, USA
Citation
PLoS Genetics, 2014, 10, 2, pp e1003991
Background: Spinocerebellar ataxia also referred to as hereditary ataxia comprises different forms of progressive neurodegenerative diseases. A complex mode of inheritance was most likely in Parson Russell Terriers (PRT) and in Jack Russell Terriers (JRT). Recently, the missense mutation ...
Author(s)
Gast, A. C.; Metzger, J.; Tipold, A.; Distl, O.
Publisher
BioMed Central Ltd, London, UK
Citation
BMC Veterinary Research, 2016, 12, 225, pp (10 October 2016)
We investigated a hereditary cerebellar ataxia in Belgian Shepherd dogs. Affected dogs developed uncoordinated movements and intention tremor at two weeks of age. The severity of clinical signs was highly variable. Histopathology demonstrated atrophy of the CNS, particularly in the cerebellum....
Author(s)
Christen, M.; Högler, S.; Kleiter, M.; Leschnik, M.; Weber, C.; Thaller, D.; Jagannathan, V.; Leeb, T.
Publisher
Public Library of Sciences (PLoS), San Francisco, USA
Citation
PLoS Genetics, 2021, 17, 8,
CASE DESCRIPTION: Two 12-week-old Norwegian Buhunds from a litter of 5 were evaluated because of slowly progressive cerebellar ataxia and fine head tremors. Two other females from the same pedigree had been previously evaluated for similar signs. CLINICAL FINDINGS: Findings of general physical...
Author(s)
Mari, L.; Matiasek, K.; Jenkins, C. A.; Stefani, A. de; Ricketts, S. L.; Forman, O.; Risio, L. de
Publisher
American Veterinary Medical Association, Schaumburg, USA
Citation
Journal of the American Veterinary Medical Association, 2018, 253, 6, pp 774-780
Spinocerebellar ataxias is anumbrella termfor clinically- andneuropathologically-heterogeneous early-onset hereditary neurodegenerative diseases affecting several dog breeds. The purpose of this study is to identify the causative genetic variant associated with ataxia, tremor, and loss of balance...
Author(s)
Letko, A.; Dietschi, E.; Nieburg, M.; Jagannathan, V.; Gurtner, C.; Oevermann, A.; Drögemüller, C.
Publisher
MDPI Publishing, Basel, Switzerland
Citation
Genes, 2019, 10, 5,
Spongious Cerebellar Degeneration with Cerebellar Ataxia (SDCA) is a hereditary neurode-generative disease with the predisposition to occur in the breed of Belgian Shepherd Malinois. Behind the neurological symptomatology is a cerebellar degeneration. We refer the case of the litter of nine...
Author(s)
Žaková, P.; Makovický, P.
Publisher
Profi Press, s.r.o., Prague, Czech Republic
Citation
Veterinářství, 2021, 71, 1, pp 13-19
The hereditary ataxias are a group of neurodegenerative diseases that cause a progressive (or episodic) cerebellar ataxia. A large number of different disorders have been described in different breeds of purebred dog, and in some instances, more than one disorder occurs in a single breed, creating...
Author(s)
Urkasemsin, G.; Olby, N. J.
Publisher
W.B. Saunders, Philadelphia, USA
Citation
Veterinary Clinics of North America, Small Animal Practice, 2014, 44, 6, pp 1075-1089