Sensory and motor neuropathy in a Border Collie

Harkin, Kenneth R.; Cash, W. C.; Shelton, G. Diane

doi:10.2460/javma.2005.227.1263

Cited by 12 publications

(22 citation statements)

References 13 publications

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“…Pathological findings of the antemortem biopsy (i.e. severe degeneration and denervation) were also similar to those of previous reports [22,48,50]. Taking these similarities into account, it is likely that Dog No.1 suffered border collie polyneuropathy.…”

Section: Discussionsupporting

confidence: 75%

“…Therefore, breedassociated congenital factors are the most likely etiology in the 2 dogs. Breed-associated polyneuropathy in border collies has been previously reported in the United Kingdom [50], Belgium [48], and North America [22]. Although there was no information concerning the familial history of the present border collie dog (Dog No.1), clinical signs were almost consistent with those of previous cases [22,48,50]: the onset of disease occurred at 2 to 5 months old, and erosion in the hind footpad was observed.…”

Section: Discussionsupporting

confidence: 75%

“…Harkin et al [22] proposed the name "sensory and motor neuropathy", because motor nerves were also involved in his case. Lesions of the present case support Harkin's opinion, because both motor and sensory nerves were impaired.…”

Section: Discussionmentioning

confidence: 99%

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Pathological Features of Polyneuropathy in Three Dogs

Tsuboi

Uchida

et al. 2013

The Journal of Veterinary Medical Science

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ABSTRACT. Canine polyneuropathy is a neurological disorder characterized by a dysfunction of multiple peripheral nerves. The etiology of the disease is diverse; it may occur in cases of infectious, immune-mediated, or hereditary conditions or in association with endocrinopathy, neoplasm, or chemical intoxication. It is often difficult to determine the etiology through clinical symptoms. The aim of this study is to investigate pathological differences among three canine polyneuropathy cases with each presumably having a different etiology. Cases included a 13-month-old female border collie (Dog No.1), a 21-month-old male chihuahua (Dog No.2) and an 11-year-old male beagle (Dog No.3 Polyneuropathy in dogs is a neurological disorder characterized by a dysfunction of multiple peripheral nerves. Initial symptoms of the disease are a lack of coordination and instability, and often progress to decreased reflexes and muscle tone, paralysis, and sensory deficits [45]. Electromyographic evidence of denervation and decreased nerve conduction velocity has been observed in affected nerves [45]. Somatic nerve dysfunctions are most predominant, and autonomic nerves may also be affected. As autonomic dysfunction may lead to laryngeal or pharyngeal paralysis, aspiration pneumonia is frequently diagnosed as a cause of death in canine polyneuropathy cases [6,16,26,32,46].Several etiologies of polyneuropathy in dogs have been previously proposed. In some cases, the disease occurs in association with Neospora caninum infection [10] or some immune-mediated diseases, such as systemic lupus erythematosus [11]. Primary autoimmune diseases against peripheral nerve myelin may also lead to the disease [1,51]. Some seem to occur in specific breeds, indicating that hereditary, familial or breed-associated factors are related to the etiology of the disease [17]. It may also be associated with endocrinopathy including diabetes mellitus [27,34,47] and hypothyroidism [25,49], intoxication of n-hexane [37] or acrylamide [20], administration of cisplatin [36] or vincristine [21], or paraneoplastic syndromes in cases of insulinoma [3,5], multicentric lymphoma [5], or disseminated carcinoma [5]. It is often difficult to distinguish the etiology of this disease through clinical symptoms.The distribution of lesions (i.e. motor or sensory, distal or proximal, anterior or posterior and symmetric or asymmetric) is useful for etiology-based classification of polyneuropathy [7,8,10]. In the human-inherited polyneuropathy, CharcotMarie-Tooth (CMT) disease, classification is established according to lesion distribution, age onset, progression speed and pathological features [18], and a number of genetic mutations have been identified in respective subtypes [7,43]. In contrast, little information on genetic factors has been accumulated in canine-inherited polyneuropathy [8]. So far, canine-inherited polyneuropathy has been reported in 22 breeds, but underlying genetic defects are not yet confirmed in most breeds [8,17].The aim of this study is to investigate ...

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Section: Discussionsupporting

confidence: 75%

Section: Discussionsupporting

confidence: 75%

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Pathological Features of Polyneuropathy in Three Dogs

Tsuboi

Uchida

et al. 2013

The Journal of Veterinary Medical Science

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“…CMT diseases also occur in dogs [7] and the dog may represent a better model for human CMT than genetically engineered mice because of its larger body size, relatively long life expectancy, and the resulting similarities to humans. Specific CMT diseases have been described in several canine breeds including Great Dane [8], Rottweiler [9], Dalmatian [10], Alaskan Malamute [11], Leonberger [12], German Shepherd [7], Italian Spinoni [13], Bouvier des Flandres [14], Border Collie [15], [16], Pyrenean Mountain dog [17], and Miniature Schnauzer [18]. The underlying genetic defect has not yet been elucidated for any of the canine CMT forms.…”

Section: Introductionmentioning

confidence: 99%

A Deletion in the N-Myc Downstream Regulated Gene 1 (NDRG1) Gene in Greyhounds with Polyneuropathy

et al. 2010

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The polyneuropathy of juvenile Greyhound show dogs shows clinical similarities to the genetically heterogeneous Charcot-Marie-Tooth (CMT) disease in humans. The pedigrees containing affected dogs suggest monogenic autosomal recessive inheritance and all affected dogs trace back to a single male. Here, we studied the neuropathology of this disease and identified a candidate causative mutation. Peripheral nerve biopsies from affected dogs were examined using semi-thin histology, nerve fibre teasing and electron microscopy. A severe chronic progressive mixed polyneuropathy was observed. Seven affected and 17 related control dogs were genotyped on the 50k canine SNP chip. This allowed us to localize the causative mutation to a 19.5 Mb interval on chromosome 13 by homozygosity mapping. The NDRG1 gene is located within this interval and NDRG1 mutations have been shown to cause hereditary motor and sensory neuropathy-Lom in humans (CMT4D). Therefore, we considered NDRG1 a positional and functional candidate gene and performed mutation analysis in affected and control Greyhounds. A 10 bp deletion in canine NDRG1 exon 15 (c.1080_1089delTCGCCTGGAC) was perfectly associated with the polyneuropathy phenotype of Greyhound show dogs. The deletion causes a frame shift (p.Arg361SerfsX60) which alters several amino acids before a stop codon is encountered. A reduced level of NDRG1 transcript could be detected by RT-PCR. Western blot analysis demonstrated an absence of NDRG1 protein in peripheral nerve biopsy of an affected Greyhound. We thus have identified a candidate causative mutation for polyneuropathy in Greyhounds and identified the first genetically characterized canine CMT model which offers an opportunity to gain further insights into the pathobiology and therapy of human NDRG1 associated CMT disease. Selection against this mutation can now be used to eliminate polyneuropathy from Greyhound show dogs.

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“…Results of these studies and illustrations have been previously published (Vermeersch et al 2005; Harkin et al 2005). Involvement of the sensory nerve was consistently severe, while mixed motor and sensory nerves varied from mild to moderate nerve fiber loss.…”

mentioning

confidence: 99%

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

Forman

Hitti

Pettitt

et al. 2016

G3 Genes|Genomes|Genetics

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Sensory neuropathy in the Border Collie is a severe neurological disorder caused by the degeneration of sensory and, to a lesser extent, motor nerve cells with clinical signs starting between 2 and 7 months of age. Using a genome-wide association study approach with three cases and 170 breed matched controls, a suggestive locus for sensory neuropathy was identified that was followed up using a genome sequencing approach. An inversion disrupting the candidate gene FAM134B was identified. Genotyping of additional cases and controls and RNAseq analysis provided strong evidence that the inversion is causal. Evidence of cryptic splicing resulting in novel exon transcription for FAM134B was identified by RNAseq experiments. This investigation demonstrates the identification of a novel sensory neuropathy associated mutation, by mapping using a minimal set of cases and subsequent genome sequencing. Through mutation screening, it should be possible to reduce the frequency of or completely eliminate this debilitating condition from the Border Collie breed population.

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Sensory and motor neuropathy in a Border Collie

Cited by 12 publications

References 13 publications

Pathological Features of Polyneuropathy in Three Dogs

Pathological Features of Polyneuropathy in Three Dogs

A Deletion in the N-Myc Downstream Regulated Gene 1 (NDRG1) Gene in Greyhounds with Polyneuropathy

An Inversion Disrupting FAM134B Is Associated with Sensory Neuropathy in the Border Collie Dog Breed

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