Neuroaxonal Dystrophy in Dogs: Case Report in 2 Litters of Papillon Puppies

Díaz, José Vargas; Duque, Carolina; Geisel, Rachel

doi:10.1111/j.1939-1676.2007.tb03002.x

Cited by 18 publications

(17 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Cerebellar signs frequently occur in humans with infantile NAD, and also in affected cats and dogs, with cerebellar lesions that typically are reported to be atrophic or dystrophic in nature. 3,4,25 Pendular nystagmus was also a prominent clinical feature in our case. Pendular nystagmus is frequently present in children with infantile NAD, and is reported to be the 1st indication of disease in a subset of this group.…”

supporting

confidence: 65%

“…7,8 Autosomal recessive heredity is reported in humans with some forms of NAD, 2 but although familial tendencies are observed in animal species, a distinct pattern of simple inheritance has not been found. 4,9,10 A single, definitive etiology of the NAD remains elusive. A genetic mutation in humans has been associated with at least 3 childhood NADs.…”

mentioning

confidence: 99%

“…Notably, MDs as a specific cause of cerebellar signs have not been documented in foals; reported cerebellar disease includes abiotrophy, characterized by Purkinje cell degeneration. 34 The presence of spheroids in the granular layer has been reported in companion animals with NAD and clinical signs of cerebellar disease, 4 and some forms of human NAD frequently involve cerebellar lesions, commonly atrophy. 2 An early, functional lesion may have existed in this foal's cerebellum but may not have progressed to an extent that would result in the histopathologic presence of characteristic spheroids.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Neuroaxonal Dystrophy Associated with Cerebellar Dysfunction in a 5‐Month‐Old Pony of the Americas Colt

Brosnahan

Holbrook

Ritchey

2009

Veterinary Internal Medicne

View full text Add to dashboard Cite

supporting

confidence: 65%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Neuroaxonal Dystrophy Associated with Cerebellar Dysfunction in a 5‐Month‐Old Pony of the Americas Colt

Brosnahan

Holbrook

Ritchey

2009

Veterinary Internal Medicne

View full text Add to dashboard Cite

“…In Papillon dogs, the disease was first reported in 1995 in England [13], and since then, it has expanded to Japan [14–16] and Canada [17]. The affected dogs initially developed intention tremor and hypermetria at a very young age, and the symptoms gradually progressed to cerebellar ataxia, tetraplegia, blindness, and deafness.…”

Section: Discussionmentioning

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

View full text Add to dashboard Cite

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.

show abstract

“…Several reports have suggested that NAD is an autosomal recessive disorder and some dog breeds have a recognized predisposition to NAD [ 5 , 6 ]. Rottweilers are the most frequently affected breed [ 3 ], although NAD has been described in Jack Russel Terriers [ 7 ], Collie Sheep dogs [ 8 ], Chihuahuas [ 9 ], and Papillon dogs [ 10 ]. Among other species, few cases of NAD have been reported in sheep [ 11 ], cats [ 2 ] and raccoons [ 12 ], while in human, Hallervorden-Spatz syndrome and Seitelberger’s disease (INAD) share pathological hallmarks with the NADs observed in companion animals [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy

et al. 2015

View full text Add to dashboard Cite

BackgroundNeuroaxonal dystrophy (NAD) is a neurodegenerative condition affecting humans and animals characterized by the widespread presence of swollen axons (spheroids).Case presentationHerein, we report the pathological findings in a case of neuroaxonal dystrophy in a Dachshund-cross puppy, which was euthanized because of a proprioceptive positioning deficits and irreversible ataxia of the hind limbs. Histologically, there was a bilaterally symmetric neuroaxonal dystrophy with eosinophilic axonal spheroids exclusively localized at the level of the ventral posterior lateral nucleus of the thalamus, medial lemniscus, gracilis nucleus, medial cuneatus nucleus in the brain as well as the gracilis and cuneatus fasciculi throughout the spinal cord.ConclusionTo the authors’ knowledge, this is the first report of canine neuroaxonal dystrophy with this exclusive and specific localization only in the neuronal circuit implicated in the transmission of conscious proprioceptive information.

show abstract

Neuroaxonal Dystrophy in Dogs: Case Report in 2 Litters of Papillon Puppies

Cited by 18 publications

References 17 publications

Neuroaxonal Dystrophy Associated with Cerebellar Dysfunction in a 5‐Month‐Old Pony of the Americas Colt

Neuroaxonal Dystrophy Associated with Cerebellar Dysfunction in a 5‐Month‐Old Pony of the Americas Colt

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

Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy

Contact Info

Product

Resources

About