Laryngeal paralysis in a Rottweiler with neuroaxonal dystrophy

Bennnett, P. F.; Clarke, Raymond E.

doi:10.1111/j.1751-0813.1997.tb15650.x

Cited by 23 publications

(25 citation statements)

References 6 publications

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“…Neuroaxonal dystrophy (NAD) is a group of rare, heterogeneous inherited neurodegenerative disorders that has been described in various mammalian species, including humans [7–8], dogs [9–21], sheep [22–24], cattle [25], horses [26–28], cats [29–30], rabbits [31], rats [32], and mice [33–37]. Although they all share a characteristic pathological feature, i .…”

Section: Introductionmentioning

confidence: 99%

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

Tsuboi

Watanabe

Nibe³

et al. 2017

PLoS ONE

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Whole exome sequencing (WES) has become a common tool for identifying genetic causes of human inherited disorders, and it has also recently been applied to canine genome research. We conducted WES analysis of neuroaxonal dystrophy (NAD), a neurodegenerative disease that sporadically occurs worldwide in Papillon dogs. The disease is considered an autosomal recessive monogenic disease, which is histopathologically characterized by severe axonal swelling, known as “spheroids,” throughout the nervous system. By sequencing all eleven DNA samples from one NAD-affected Papillon dog and her parents, two unrelated NAD-affected Papillon dogs, and six unaffected control Papillon dogs, we identified 10 candidate mutations. Among them, three candidates were determined to be “deleterious” by in silico pathogenesis evaluation. By subsequent massive screening by TaqMan genotyping analysis, only the PLA2G6 c.1579G>A mutation had an association with the presence or absence of the disease, suggesting that it may be a causal mutation of canine NAD. As a human homologue of this gene is a causative gene for infantile neuroaxonal dystrophy, this canine phenotype may serve as a good animal model for human disease. The results of this study also indicate that WES analysis is a powerful tool for exploring canine hereditary diseases, especially in rare monogenic hereditary diseases.

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Section: Introductionmentioning

confidence: 99%

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

Tsuboi

Watanabe

Nibe³

et al. 2017

PLoS ONE

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“…Congenital LP polyneuropathy has been reported in Rottweilers, bouviers des Flandres, bull terriers, Dalmatians, German shepherd dogs, Afghan hounds, cocker spaniels, dachshunds, miniature pinchers and Siberian huskies (Bennnett & Clarke 1997;Braund 1994;Braund et al 1994;Braund et al 1989;Eger et al 1998;Harvey & O'Brien 1982;Mahony et al 1998;O'Brien & Hendriks 1986;Ridyard et al 2000;Venker-van Haagen 1982). Clinical signs indicating the presence of a polyneuropathy can also be present.…”

Section: Aetiologies and Classificationmentioning

confidence: 93%

Laryngeal paralysis in dogs: An update on recent knowledge

Kitshoff

Goethem

Stegen

et al. 2013

J. S. Afr. Vet. Assoc.

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Laryngeal paralysis is the effect of an inability to abduct the arytenoid cartilages during inspiration, resulting in respiratory signs consistent with partial airway obstruction. The aetiology of the disease can be congenital (hereditary laryngeal paralysis or congenital polyneuropathy), or acquired (trauma, neoplasia, polyneuropathy, endocrinopathy). The most common form of acquired laryngeal paralysis (LP) is typically seen in old, large breed dogs and is a clinical manifestation of a generalised peripheral polyneuropathy recently referred to as geriatric onset laryngeal paralysis polyneuropathy. Diagnosing LP based on clinical signs, breed and history has a very high sensitivity (90%) and can be confirmed bylaryngeal inspection. Prognosis after surgical correction depends on the aetiology: traumatic cases have a good prognosis, whereas tumour-induced or polyneuropathy-induced LP has a guarded prognosis. Acquired idiopathic LP is a slow progressive disease, with dogs reaching median survival times of 3-5 years after surgical correction.

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“…Congenital laryngeal paralysis has been reported in Bouvier de Flandres, dalmatians, rottweilers, Pyrenean mountain dogs, Leonberger, Siberian huskies and husky crossbreeds [8,[12][13][14][15][16][17][18][19]. This form of the condition is associated with progressive degeneration of the neurons in the nucleus ambiguus followed by Wallerian degeneration of the laryngeal nerves [14,16].…”

Section: Introductionmentioning

confidence: 99%

“…This form of the condition is associated with progressive degeneration of the neurons in the nucleus ambiguus followed by Wallerian degeneration of the laryngeal nerves [14,16]. Dogs with congenital laryngeal paralysis frequently present before 1 year of age and onset of clinical signs can occur as early as 9-13 weeks of age [17,18].…”

Section: Introductionmentioning

confidence: 99%

Upper Airway Disease: Laryngeal Paralysis

Karbe

2015

Small Animal Surgical Emergencies

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Laryngeal paralysis in a Rottweiler with neuroaxonal dystrophy

Cited by 23 publications

References 6 publications

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis

Laryngeal paralysis in dogs: An update on recent knowledge

Upper Airway Disease: Laryngeal Paralysis

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