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1.
I. Hajek F. Kettner V. Simerdova C. Rusbridge P. Wang B. A. Minassian V. Palus 《The Journal of small animal practice》2016,57(11):650-652
Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including beagles, in which the disease is relatively commonly reported. This case report describes the causative defect in two affected beagles, namely the same massive expansion as in miniature wirehaired dachshunds of a 12‐nucleotide repeat sequence that is unique to the canine NHLRC1 gene. This is the first mutation described in beagles with Lafora disease, and so far the only Lafora disease genetic variant in dogs. 相似文献
2.
Rusbridge C MacSweeny JE Davies JV Chandler K Fitzmaurice SN Dennis R Cappello R Wheeler SJ 《Journal of the American Animal Hospital Association》2000,36(1):34-41
Syringohydromyelia secondary to foramen magnum overcrowding is described in seven Cavalier King Charles spaniels. Clinical signs were consistent with a central spinal cord lesion. The most common signs were persistent scratching at the shoulder region with apparent neck, thoracic limb, or ear pain and thoracic limb lower motor neuron deficits. The diagnosis was made by magnetic resonance imaging. The syringohydromyelia is postulated to be a consequence of an occipital bone malformation resulting in a small caudal fossa and cerebellar herniation. Clinical signs improved but did not completely resolve when the dogs received treatment with corticosteroids or nonsteroidal anti-inflammatory drugs. 相似文献
3.
A.C. Freeman S.R. Platt M. Kent E. Huguet C. Rusbridge S. Holmes 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2014,28(5):1551-1559
Background
Although Chiari‐like malformation (CM) and syringomyelia (SM) have been described in many small breed dogs, the prevalence and clinical manifestations of this complex have not been documented in a large cohort of American Brussels Griffon (ABG) dogs.Objectives
To characterize the clinical and magnetic resonance imaging (MRI) features of CM and SM in the ABG breed.Animals
Eighty‐four American Kennel Club registered ABG dogs were recruited.Methods
Prospective study. Complete histories and neurologic examinations were obtained before MRI. Images were blindly reviewed and calculations were made by using OsiriX. All analyses were performed by Student''s t‐test, Spearman''s correlation, ANOVA, and chi‐square test where appropriate.Results
Chiari‐like malformation and SM were present in 65% and 52% of dogs, respectively. Twenty‐eight percent of dogs had neurologic deficits and 20% had neck pain. Mean central canal (CC) transverse height was 2.5 mm with a mean length of 3.6 cervical vertebrae. Neurologic deficits were significantly associated with a larger syrinx (P = .04, P = .08) and syrinx size increased with age (P = .027). SM was associated with a smaller craniocervical junction (CCJ) height (P = .04) and larger ventricles (P = .0001; P < .001).Conclusions and Clinical Importance
Syringomyelia and CM are prevalent in American Brussels Griffon dogs. Syrinx size is associated with neurologic deficits, CM, larger ventricles, a smaller craniocervical junction height, neurologic deficits, and cerebellar herniation. Fifty‐two percent of dogs with a SM were clinically normal. 相似文献4.
5.
Syringomyelia in cavalier King Charles spaniels: the relationship between syrinx dimensions and pain 总被引:1,自引:0,他引:1
Rusbridge C Carruthers H Dubé MP Holmes M Jeffery ND 《The Journal of small animal practice》2007,48(8):432-436
OBJECTIVES: This study was designed to test the hypothesis that pain associated with syringomyelia in dogs is dependent upon size and involvement of the dorsal part of the spinal cord. METHODS: Masked observers determined syrinx dimensions and precise location within the spinal cord on magnetic resonance images of 55 cavalier King Charles spaniels with syringomyelia. After removal of masking, syrinx size and location were compared between the cohorts of dogs that exhibited pain with those that did not. RESULTS: Maximum syrinx width was the strongest predictor of pain, scratching behaviour and scoliosis in dogs with syringomyelia. Both pain and syrinx size were positively correlated with syrinxes located in the dorsal half of the spinal cord. CLINICAL SIGNIFICANCE: Large syrinxes associated with damage to the dorsal part of the spinal cord are associated with persistent pain suggesting that the pain behaviour expressed by this group of patients is likely to be "neuropathic pain," resulting from disordered neural processing in the damaged dorsal horn. As such it is likely that conventional analgesic medication may be ineffective. 相似文献
6.
Rusbridge C 《The Journal of small animal practice》2005,46(6):265-272
Several neurological syndromes have been described in Cavalier King Charles spaniels and many of the conditions have similar clinical signs. The current knowledge of these syndromes is reviewed in this article, with the aim of enabling the general practitioner to formulate a differential diagnosis and plan for diagnostic tests and treatment. Specifically, the article discusses and contrasts the most common conditions seen, Including occipital hypoplasia/syringomyelia, episodic collapse, epilepsy and vestibular disorders. 相似文献
7.
Rusbridge C Greitz D Iskandar BJ 《Journal of veterinary internal medicine / American College of Veterinary Internal Medicine》2006,20(3):469-479
Syringomyelia is a condition that results in fluid-containing cavities within the parenchyma of the spinal cord as a consequence of altered cerebrospinal fluid dynamics. This review discusses the history and the classification of the disorder, the current theories of pathogenesis, and the advanced imaging modalities used in the diagnosis. The intramedullary pulse pressure theory (a new pathophysiologic concept of syringomyelia) also is presented. In addition, the current understanding of the painful nature of this condition is discussed and the current trends in medical and surgical management are reviewed. 相似文献
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9.
Chiari-like malformation with syringomyelia in the Cavalier King Charles spaniel: long-term outcome after surgical management 总被引:1,自引:0,他引:1
Rusbridge C 《Veterinary surgery : VS》2007,36(5):396-405
Objective– To evaluate long-term success of cranial cervical decompression for management of canine Chiari-like malformation with syringomyelia (CM/SM).
Study Design– Retrospective clinical study.
Animals– Cavalier King Charles spaniels (n=15).
Methods– After diagnosis by magnetic resonance imaging (MRI) dogs had cranial cervical decompression with durotomy. Seven dogs had the durotomy patched with biocompatible collagen matrix. Clinical outcome was monitored for >12 months.
Results– All dogs either improved (80%) or were unchanged (20%) postoperatively. Postoperative MRI in 6 dogs revealed persistence of syringomyelia. Seven dogs (47%) subsequently deteriorated, 0.2–2.3 years after surgery (mean, 1.3 years) and 2 dogs were eventually euthanatized as a consequence. Twelve dogs were still alive, 1–6.5 years after surgery (mean, 2.5 years).
Conclusion– Cranial cervical decompression surgery is associated with low mortality and morbidity, and results in clinical improvement in most dogs. The procedure seemingly does not result in syrinx collapse and resolution. Clinical improvement may not be sustained and some dogs can be expected to deteriorate.
Clinical Relevance– Cranial cervical decompression surgery may have a role in management of CM/SM. In dogs with severe pain, it can improve quality of life for several years; however, it does not appear to adequately address the primary cause of syringomyelia. Further prospective study is needed to better understand the pathogenesis and treatment of this disorder. Because this condition causes neuropathic pain but does not necessarily result in euthanasia more information is needed on appropriate pain management for these patients. 相似文献
Study Design– Retrospective clinical study.
Animals– Cavalier King Charles spaniels (n=15).
Methods– After diagnosis by magnetic resonance imaging (MRI) dogs had cranial cervical decompression with durotomy. Seven dogs had the durotomy patched with biocompatible collagen matrix. Clinical outcome was monitored for >12 months.
Results– All dogs either improved (80%) or were unchanged (20%) postoperatively. Postoperative MRI in 6 dogs revealed persistence of syringomyelia. Seven dogs (47%) subsequently deteriorated, 0.2–2.3 years after surgery (mean, 1.3 years) and 2 dogs were eventually euthanatized as a consequence. Twelve dogs were still alive, 1–6.5 years after surgery (mean, 2.5 years).
Conclusion– Cranial cervical decompression surgery is associated with low mortality and morbidity, and results in clinical improvement in most dogs. The procedure seemingly does not result in syrinx collapse and resolution. Clinical improvement may not be sustained and some dogs can be expected to deteriorate.
Clinical Relevance– Cranial cervical decompression surgery may have a role in management of CM/SM. In dogs with severe pain, it can improve quality of life for several years; however, it does not appear to adequately address the primary cause of syringomyelia. Further prospective study is needed to better understand the pathogenesis and treatment of this disorder. Because this condition causes neuropathic pain but does not necessarily result in euthanasia more information is needed on appropriate pain management for these patients. 相似文献
10.