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Robert D. Schnabel - One of the best experts on this subject based on the ideXlab platform.
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a homozygous kcnj10 mutation in Jack Russell terriers and related breeds with spinocerebellar ataxia with myokymia seizures or both
Journal of Veterinary Internal Medicine, 2014Co-Authors: David Gilliam, Gayle C Johnson, Tendai Mhlangamutangadura, Liz Hansen, Dennis P Obrien, Jeremy F. Taylor, Joan R. Coates, Gary S Johnson, Robert D. SchnabelAbstract:Background Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. Hypothesis/Objectives The objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia, seizures, or both and distinguish the phenotype from other ataxias in the RGTs. Animals DNA samples from 16 RGTs with spinocerebellar ataxia beginning from 2 to 12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs were studied. Methods This case-control study compared the frequencies of a KCNJ10 allele in RGTs with spinocerebellar ataxia versus control RGTs. This allele was identified in a whole-genome sequence of a single RGT with spinocerebellar ataxia and myokymia by comparison to whole-genome sequences from 81 other canids that were normal or had other diseases. Results A missense mutation in the gene coding for the inwardly rectifying potassium channel Kir4.1 (KCNJ10:c.627C>G) was significantly (P < .001) associated with the disease. Dogs homozygous for the mutant allele all had spinocerebellar ataxia with varying combinations of myokymia and seizures. Conclusions and Clinical Importance Identification of the KCNJ10 mutation in dogs with spinocerebellar ataxia with myokymia, seizures, or both clarifies the multiple forms of ataxia seen in these breeds and provides a DNA test to identify carriers.
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A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both
Journal of Veterinary Internal Medicine, 2014Co-Authors: David Gilliam, Gayle C Johnson, Liz Hansen, Tendai Mhlanga-mutangadura, Dennis P. O'brien, Jeremy F. Taylor, Joan R. Coates, Gary S Johnson, Robert D. SchnabelAbstract:Background Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. Hypothesis/Objectives The objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia, seizures, or both and distinguish the phenotype from other ataxias in the RGTs. Animals DNA samples from 16 RGTs with spinocerebellar ataxia beginning from 2 to 12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs were studied. Methods This case-control study compared the frequencies of a KCNJ10 allele in RGTs with spinocerebellar ataxia versus control RGTs. This allele was identified in a whole-genome sequence of a single RGT with spinocerebellar ataxia and myokymia by comparison to whole-genome sequences from 81 other canids that were normal or had other diseases. Results A missense mutation in the gene coding for the inwardly rectifying potassium channel Kir4.1 (KCNJ10:c.627C>G) was significantly (P
Craig Smith - One of the best experts on this subject based on the ideXlab platform.
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Jack Russell Weinstein's Adam Smith's pluralism: rationality, education, and the moral sentiments. New Haven & London: Yale University Press, 2013, 360 pp.
Erasmus Journal for Philosophy and Economics, 2014Co-Authors: Craig SmithAbstract:Review of Jack Russell Weinstein's Adam Smith's pluralism: rationality, education, and the moral sentiments. New Haven & London: Yale University Press, 2013, 360 pp.Jack Russell Weinstein's new book sets itself two major tasks: to argue that Adam Smith offers "a coherent philosophy of education that permeates his system" (p. 216) and that Smith's thinking is interestingly attuned to the very modern problem of pluralism. The first strand of argument seeks to provide a way of reading Smith that demystifies some of the remaining ambiguity across his oeuvre. The second sees in Smith an anticipation of current debates about cultural diversity and pluralism.In seeking to apply Smithian ideas in a contemporary setting Weinstein rejects the limiting over-emphasis on contextualism. His approach accepts the importance of getting Smith 'right' through historically informed readings, but denies that this is where the inquiry must cease. As Weinstein himself admits this is a difficult task (p. 9), but it is a potentially profitable approach and one which is proving increasingly attractive. Weinstein aims to examine Smith's potential contribution to contemporary debates on pluralism by offering "the first full-length investigation of Smith's philosophy of education and his theory of rationality" (p. 15).Weinstein provides an interpretation of Smith that sees his writings as characterised by the desire to provide an expansive account of human rationality. He points out Smith's attempts to distance himself from a dependence on formal logic and stresses Smith's interest in rhetoric and narrative notions of learning and rationality. The early chapters trace Smith's interaction with Mandeville, Shaftesbury, and Hutcheson, suggesting that his dissatisfaction with elements of the thought of each is combined with a facility for absorbing what is of use. There is a particularly interesting comparison of Smithian spectatorship and Shaftesbury's soliloquy (p. 44), which opens the way into the idea of rationality that runs through Weinstein's reading. Both Smith's impartial spectator and Shaftesbury's soliloquy involve "dialogical self-division" that results in the need for "rational adjudication" between competing mental features in a given context (p. 44).The book has three significant contemporary interlocutors: Alasdair MacIntyre, Michel Foucault, and James Otteson. The account of rationality provided is clearly influenced by MacIntyre; in the closing chapters Foucault is considered in terms of the notion of progress in history and the extent to which he may have failed to grasp Smith's views; Otteson on the other hand appears as a foil in the initial part of the book. A great deal of time is spent establishing that Weinstein is offering an alternative to Otteson's (2002) use of the metaphor of the 'Marketplace' in his account of Smith's theory. The objection seems more than a little manufactured. As Weinstein admits, the two agree on a large range of issues; the disagreement as he sees it is that by using the metaphor of the marketplace Otteson might mislead readers into prioritising market-like interactions in reading The theory of moral sentiments [TMS] (p. 50) or into viewing the market as Smith's sole organisational principle (p. 65). But the disagreement seems to be less about their very similar accounts of unintended consequences and more about potential misreading and extensions of the market into other areas (via homo economicus). This strikes me as a manufactured disagreement in that the underlying similarities of the two authors are ignored in favour of a rhetorical disagreement. Otteson's account of Smith does not depend on homo economicus, nor does it invite any but the most superficial reader to see that as Smith's view. He uses the market as a metaphor for more general spontaneous order accounts-including Smith's argument in TMS-while accepting that the general model has important nuances in its application. …
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Jack Russell weinstein s adam smith s pluralism rationality education and the moral sentiments new haven london yale university press 2013 360 pp
Erasmus Journal of Philosophy and Economics, 2014Co-Authors: Craig SmithAbstract:Review of Jack Russell Weinstein's Adam Smith's pluralism: rationality, education, and the moral sentiments. New Haven & London: Yale University Press, 2013, 360 pp.Jack Russell Weinstein's new book sets itself two major tasks: to argue that Adam Smith offers "a coherent philosophy of education that permeates his system" (p. 216) and that Smith's thinking is interestingly attuned to the very modern problem of pluralism. The first strand of argument seeks to provide a way of reading Smith that demystifies some of the remaining ambiguity across his oeuvre. The second sees in Smith an anticipation of current debates about cultural diversity and pluralism.In seeking to apply Smithian ideas in a contemporary setting Weinstein rejects the limiting over-emphasis on contextualism. His approach accepts the importance of getting Smith 'right' through historically informed readings, but denies that this is where the inquiry must cease. As Weinstein himself admits this is a difficult task (p. 9), but it is a potentially profitable approach and one which is proving increasingly attractive. Weinstein aims to examine Smith's potential contribution to contemporary debates on pluralism by offering "the first full-length investigation of Smith's philosophy of education and his theory of rationality" (p. 15).Weinstein provides an interpretation of Smith that sees his writings as characterised by the desire to provide an expansive account of human rationality. He points out Smith's attempts to distance himself from a dependence on formal logic and stresses Smith's interest in rhetoric and narrative notions of learning and rationality. The early chapters trace Smith's interaction with Mandeville, Shaftesbury, and Hutcheson, suggesting that his dissatisfaction with elements of the thought of each is combined with a facility for absorbing what is of use. There is a particularly interesting comparison of Smithian spectatorship and Shaftesbury's soliloquy (p. 44), which opens the way into the idea of rationality that runs through Weinstein's reading. Both Smith's impartial spectator and Shaftesbury's soliloquy involve "dialogical self-division" that results in the need for "rational adjudication" between competing mental features in a given context (p. 44).The book has three significant contemporary interlocutors: Alasdair MacIntyre, Michel Foucault, and James Otteson. The account of rationality provided is clearly influenced by MacIntyre; in the closing chapters Foucault is considered in terms of the notion of progress in history and the extent to which he may have failed to grasp Smith's views; Otteson on the other hand appears as a foil in the initial part of the book. A great deal of time is spent establishing that Weinstein is offering an alternative to Otteson's (2002) use of the metaphor of the 'Marketplace' in his account of Smith's theory. The objection seems more than a little manufactured. As Weinstein admits, the two agree on a large range of issues; the disagreement as he sees it is that by using the metaphor of the marketplace Otteson might mislead readers into prioritising market-like interactions in reading The theory of moral sentiments [TMS] (p. 50) or into viewing the market as Smith's sole organisational principle (p. 65). But the disagreement seems to be less about their very similar accounts of unintended consequences and more about potential misreading and extensions of the market into other areas (via homo economicus). This strikes me as a manufactured disagreement in that the underlying similarities of the two authors are ignored in favour of a rhetorical disagreement. Otteson's account of Smith does not depend on homo economicus, nor does it invite any but the most superficial reader to see that as Smith's view. He uses the market as a metaphor for more general spontaneous order accounts-including Smith's argument in TMS-while accepting that the general model has important nuances in its application. …
David Gilliam - One of the best experts on this subject based on the ideXlab platform.
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a homozygous kcnj10 mutation in Jack Russell terriers and related breeds with spinocerebellar ataxia with myokymia seizures or both
Journal of Veterinary Internal Medicine, 2014Co-Authors: David Gilliam, Gayle C Johnson, Tendai Mhlangamutangadura, Liz Hansen, Dennis P Obrien, Jeremy F. Taylor, Joan R. Coates, Gary S Johnson, Robert D. SchnabelAbstract:Background Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. Hypothesis/Objectives The objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia, seizures, or both and distinguish the phenotype from other ataxias in the RGTs. Animals DNA samples from 16 RGTs with spinocerebellar ataxia beginning from 2 to 12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs were studied. Methods This case-control study compared the frequencies of a KCNJ10 allele in RGTs with spinocerebellar ataxia versus control RGTs. This allele was identified in a whole-genome sequence of a single RGT with spinocerebellar ataxia and myokymia by comparison to whole-genome sequences from 81 other canids that were normal or had other diseases. Results A missense mutation in the gene coding for the inwardly rectifying potassium channel Kir4.1 (KCNJ10:c.627C>G) was significantly (P < .001) associated with the disease. Dogs homozygous for the mutant allele all had spinocerebellar ataxia with varying combinations of myokymia and seizures. Conclusions and Clinical Importance Identification of the KCNJ10 mutation in dogs with spinocerebellar ataxia with myokymia, seizures, or both clarifies the multiple forms of ataxia seen in these breeds and provides a DNA test to identify carriers.
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A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both
Journal of Veterinary Internal Medicine, 2014Co-Authors: David Gilliam, Gayle C Johnson, Liz Hansen, Tendai Mhlanga-mutangadura, Dennis P. O'brien, Jeremy F. Taylor, Joan R. Coates, Gary S Johnson, Robert D. SchnabelAbstract:Background Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. Hypothesis/Objectives The objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia, seizures, or both and distinguish the phenotype from other ataxias in the RGTs. Animals DNA samples from 16 RGTs with spinocerebellar ataxia beginning from 2 to 12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs were studied. Methods This case-control study compared the frequencies of a KCNJ10 allele in RGTs with spinocerebellar ataxia versus control RGTs. This allele was identified in a whole-genome sequence of a single RGT with spinocerebellar ataxia and myokymia by comparison to whole-genome sequences from 81 other canids that were normal or had other diseases. Results A missense mutation in the gene coding for the inwardly rectifying potassium channel Kir4.1 (KCNJ10:c.627C>G) was significantly (P
L. M. Van Ham - One of the best experts on this subject based on the ideXlab platform.
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Myokymia and neuromyotonia in veterinary medicine: a comparison with peripheral nerve hyperexcitability syndrome in humans.
Veterinary journal (London England : 1997), 2013Co-Authors: An Vanhaesebrouck, Sofie Bhatti, Robin J.m. Franklin, L. M. Van HamAbstract:Involuntary muscle hyperactivity can result from muscle or peripheral nerve hyperexcitability or central nervous system dysfunction. In humans, diseases causing hyperexcitability of peripheral nerves are grouped together under the term 'peripheral nerve hyperexcitability' (PNH). Hyperexcitability of the peripheral motor nerve can result into five different phenotypic main variants, i.e. fasciculations, myokymia, neuromyotonia, cramps and tetany, each with their own clinical and electromyographic characteristics. This review focuses on the most commonly described expressions of PNH in veterinary medicine, i.e. myokymia and neuromyotonia, in particular in young Jack Russell terriers. Data from 58 veterinary cases with generalized myokymia and neuromyotonia were analyzed, including unpublished treatment and follow-up data on eight Jack Russell terriers from a previous study and seven additional Jack Russell terriers. A dysfunction of the potassium channel or its associated proteins has been found in many human syndromes characterized by PNH, in particular in generalized myokymia and neuromyotonia, and is suspected to occur in veterinary medicine. Potential pathomechanisms of potassium channel dysfunction leading to signs of PNH are broad and include genetic mutations, antibody-mediated attack or ion channel maldistribution due to axonal degeneration or demyelination. A more accurate classification of the different PNH syndromes will facilitate a more rapid diagnosis and guide further research into natural occurring PNH in animals.
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Hereditary ataxia, myokymia and neuromyotonia in Jack Russell terriers
The Veterinary record, 2012Co-Authors: An Vanhaesebrouck, L. M. Van Ham, Robin J.m. Franklin, Sofie BhattiAbstract:A CONDITION characterised by hereditary ataxia, myokymia and neuromyotonia has been described in the Jack Russell terrier breed (Van Ham and others 2004, Vanhaesebrouck and others 2010, Bhatti and others 2011). Myokymia (undulating muscle contractions that induce a rippling appearance of the overlying skin) is usually apparent at a very young age (several months to three years). Most dogs also show episodes of neuromyotonia (sustained generalised muscle …
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Experimental validation of in silico predicted KCNA1, KCNA2, KCNA6 and KCNQ2 genes for association studies of peripheral nerve hyperexcitability syndrome in Jack Russell Terriers
Neuromuscular disorders : NMD, 2012Co-Authors: Mario Van Poucke, An Vanhaesebrouck, Luc Peelman, L. M. Van HamAbstract:KCNA1, KCNA2, KCNA6 and KCNQ2 are associated with peripheral nerve hyperexcitability in humans. In order to determine if these genes are also involved in Jack Russell Terriers with a similar syndrome characterized by myokymia and neuromyotonia, their predicted canine orthologs were first validated experimentally. They were found either incompletely or even incorrectly annotated, mainly due to gaps in the canine genomic sequence and insufficient transcript data. Canine KCNQ2 was found to contain 20 coding exons, of which three are not described in humans. It encodes for at least 14 different transcript variants in the frontal cortex of a single dog, of which only four are also described in humans. Mutation detection in Jack Russell Terriers diagnosed with peripheral nerve hyperexcitability revealed no pathogenetic relevant structural mutations. However, the four missense sequence variations and the 14 transcript variants of KCNQ2 will contribute to the study of the functional diversity of voltage-gated potassium channels.
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Neuromyotonia in a dachshund with clinical and electrophysiological signs of spinocerebellar ataxia.
The Journal of small animal practice, 2011Co-Authors: An Vanhaesebrouck, Sofie Bhatti, Ingeborgh Polis, I. N. Plessas, L. M. Van HamAbstract:A 10-month-old dachshund was presented with a recent history of episodic muscle rippling and generalised stiffness. An uncoordinated gait was present since eight weeks of age. On presentation the dog showed cerebellar-like ataxia and poor menace responses. Myokymic contractions were visible in the appendicular and truncal muscles and neuromyotonic discharges were detected by electromyography. Central components of the brain auditory evoked potentials were absent and the onset latencies of the tibial sensory-evoked potentials recorded at the lumbar intervertebral level were delayed. Response to slow-release phenytoin was temporary. The clinical picture together with the electrophysiological findings in this dachshund are identical to the findings in Jack Russell terriers with hereditary ataxia and neuromyotonia. This is the first description of neuromyotonia associated with clinical and electrophysiological signs of spinocerebellar ataxia in a breed other than the Jack Russell terrier. This case also strengthens the theory that spinocerebellar ataxia and neuromyotonia are related. An ion channel dysfunction is presumed to link both disorders.
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Myokymia and neuromyotonia in 37 Jack Russell terriers.
Veterinary journal (London England : 1997), 2010Co-Authors: Sofie Bhatti, An Vanhaesebrouck, Ingeborgh Polis, Iris Van Soens, Valentine Martlé, Clare Rusbridge, L. M. Van HamAbstract:The clinical and clinicopathological characteristics, treatment and outcome of vermicular muscle contractions (myokymia) and generalized muscle stiffness (neuromyotonia) in 37 Jack Russell terriers were evaluated retrospectively. Thirty dogs were affected by both disorders, whereas seven were presented with myokymia and never developed neuromyotonia. Clinical signs started at the mean age of 8 months. Except for signs of myokymia and neuromyotonia, clinical and neurological examination was normal in all dogs. Thirty dogs demonstrated typical signs of hereditary ataxia. Changes in serum chemistry included increased creatine kinase, aspartate aminotransferase and alanine aminotransferase concentrations. Electromyographic abnormalities, especially in muscles showing macroscopically visible myokymia, consisted of semirhythmic bursts of doublet, triplet, or multiplet discharges of a single motor unit. The amplitudes varied between 80 μV and 1 mV and occurred with an interburst frequency between 10 and 40 Hz and an intraburst frequency between 150 and 280 Hz. Most dogs were treated with a sodium channel blocker with variable results. Seven dogs died (most likely because of hyperthermia) or were euthanased during a neuromyotonic attack; 15 dogs were euthanased due to worsening of clinical signs, or lack of or no long-lasting effect of medication, and three were euthanased for unknown or unrelated reasons. Nine dogs were lost to follow-up and three were still alive 5-10.5 years after the start of clinical signs. In conclusion, young Jack Russell terriers with myokymia and neuromyotonia should undergo a complete blood and electrophysiological examination. Long-term prognosis is not favourable.
Gary S Johnson - One of the best experts on this subject based on the ideXlab platform.
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A KCNJ10 mutation previously identified in the Russell group of terriers also occurs in Smooth-Haired Fox Terriers with hereditary ataxia and in related breeds
Acta Veterinaria Scandinavica, 2015Co-Authors: Cecilia Rohdin, Joan R. Coates, Gary S Johnson, Douglas Gilliam, Caroline A. O’leary, Dennis P. O’brien, Karin Hultin JäderlundAbstract:Background Hereditary ataxias with similar phenotypes were reported in the Smooth-Haired Fox Terrier, the Jack Russell Terrier and the Parson Russell Terrier. However, segregation analyses showed differing inheritance modes in these breeds. Recently, molecular genetic studies on the Russell group of terriers found independent mutations in KCNJ10 and CAPN1 , each associated with a specific clinical subtype of inherited ataxia. The aim of this study was to clarify whether or not Smooth-Haired Fox Terriers with hereditary ataxia and dogs of other related breeds harbor either of the same mutations. A sub goal was to update the results of KCNJ10 genotyping in Russell group terriers. Findings Three Smooth-Haired Fox Terriers with hereditary ataxia and two Toy Fox Terriers with a similar phenotype were all homozygous for the KCNJ10 mutation. The same mutation was also found in a heterozygous state in clinically unaffected Tenterfield Terriers (n = 5) and, in agreement with previous studies, in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers. Conclusions A KCNJ10 mutation, previously associated with an autosomal recessive spinocerebellar ataxia in Jack Russell Terriers, Parson Russell Terriers, and Russell Terriers segregates in at least three more breeds descended from British hunting terriers. Ataxic members of two of these breeds, the Smooth-Haired Fox Terrier and the Toy Fox Terrier, were homozygous for the mutation, strengthening the likelihood that this genetic defect is indeed the causative mutation for the disease known as “hereditary ataxia” in Fox Terriers and “spinocerebellar ataxia with myokymia, seizures or both” in the Russell group of terriers.
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a homozygous kcnj10 mutation in Jack Russell terriers and related breeds with spinocerebellar ataxia with myokymia seizures or both
Journal of Veterinary Internal Medicine, 2014Co-Authors: David Gilliam, Gayle C Johnson, Tendai Mhlangamutangadura, Liz Hansen, Dennis P Obrien, Jeremy F. Taylor, Joan R. Coates, Gary S Johnson, Robert D. SchnabelAbstract:Background Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. Hypothesis/Objectives The objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia, seizures, or both and distinguish the phenotype from other ataxias in the RGTs. Animals DNA samples from 16 RGTs with spinocerebellar ataxia beginning from 2 to 12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs were studied. Methods This case-control study compared the frequencies of a KCNJ10 allele in RGTs with spinocerebellar ataxia versus control RGTs. This allele was identified in a whole-genome sequence of a single RGT with spinocerebellar ataxia and myokymia by comparison to whole-genome sequences from 81 other canids that were normal or had other diseases. Results A missense mutation in the gene coding for the inwardly rectifying potassium channel Kir4.1 (KCNJ10:c.627C>G) was significantly (P < .001) associated with the disease. Dogs homozygous for the mutant allele all had spinocerebellar ataxia with varying combinations of myokymia and seizures. Conclusions and Clinical Importance Identification of the KCNJ10 mutation in dogs with spinocerebellar ataxia with myokymia, seizures, or both clarifies the multiple forms of ataxia seen in these breeds and provides a DNA test to identify carriers.
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A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both
Journal of Veterinary Internal Medicine, 2014Co-Authors: David Gilliam, Gayle C Johnson, Liz Hansen, Tendai Mhlanga-mutangadura, Dennis P. O'brien, Jeremy F. Taylor, Joan R. Coates, Gary S Johnson, Robert D. SchnabelAbstract:Background Juvenile-onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures, and other signs of neurologic disease. More than 1 form of the disease has been suspected. Hypothesis/Objectives The objective was to identify the mutation causing the spinocerebellar ataxia associated with myokymia, seizures, or both and distinguish the phenotype from other ataxias in the RGTs. Animals DNA samples from 16 RGTs with spinocerebellar ataxia beginning from 2 to 12 months of age, 640 control RGTs, and 383 dogs from 144 other breeds along with the medical records of affected dogs were studied. Methods This case-control study compared the frequencies of a KCNJ10 allele in RGTs with spinocerebellar ataxia versus control RGTs. This allele was identified in a whole-genome sequence of a single RGT with spinocerebellar ataxia and myokymia by comparison to whole-genome sequences from 81 other canids that were normal or had other diseases. Results A missense mutation in the gene coding for the inwardly rectifying potassium channel Kir4.1 (KCNJ10:c.627C>G) was significantly (P