Late onset of cerebellar cortical degeneration in a Magellanic penguin ( Spheniscus magellanicus )

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Abstract

An 8-year-old female Magellanic penguin ( Spheniscus magellanicus) started to show epilepsy-like seizures. Subsequent magnetic resonance imaging (MRI) examinations did not reveal any responsible lesions. The neurological symptoms worsened at the age of 10. This penguin became recumbent and died 6 months later after the apparition of the recumbency. At necropsy, only multiple yellowish necrotic lesions in the air sacs and lungs were found. Histopathological evaluation of the brain showed a marked loss of Purkinje cells and many hypertrophied parvalbumin-positive basket/stellate cells were seen in the cerebellar cortex. Calbindin immunohistochemistry demonstrated disrupted arrangement of dendrites in the Purkinje cells. This case was diagnosed as cerebellar cortical degeneration with a very late onset and a slow progression in a Magellanic penguin.

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Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed

Joe Fenn, Mike Boursnell, Rebekkah J. Hitti … (2016)

Background Cerebellar cortical degeneration (CCD) is an increasingly recognised neurodegenerative disease process affecting many dog breeds. Typical presentation consists of a progressive cerebellar ataxia, with a variable age at onset and rate of progression between different breeds. Cerebellar histopathological findings typically consist of primary Purkinje neuronal degeneration and loss, with variable secondary depletion of the granular and molecular cell layers. Causative genes have been identified associated with CCD in several breeds, allowing screening for selective breeding to reduce the prevalence of these conditions. There have been no previous reports of CCD in Hungarian Vizslas. Results Two full-sibling Hungarian Vizsla puppies from a litter of nine presented with a history of progressive ataxia, starting around three months of age. Clinical signs included marked hypermetric and dysmetric ataxia, truncal sway, intention tremors and absent menace responses, with positional horizontal nystagmus in one dog. Routine diagnostic investigations were unremarkable, and magnetic resonance imaging performed in one dog revealed mild craniodorsal cerebellar sulci widening, supportive of cerebellar atrophy. Owners of both dogs elected for euthanasia shortly after the onset of signs. Histopathological examination revealed primary Purkinje neuron loss consistent with CCD. Whole genome sequencing was used to successfully identify a disease-associated splice donor site variant in the sorting nexin 14 gene (SNX14) as a strong causative candidate. An altered SNX14 splicing pattern for a CCD case was demonstrated by RNA analysis, and no SNX14 protein could be detected in CCD case cerebellum by western blotting. SNX14 is involved in maintaining normal neuronal excitability and synaptic transmission, and a mutation has recently been found to cause autosomal recessive cerebellar ataxia and intellectual disability syndrome in humans. Genetic screening of 133 unaffected Hungarian Vizslas revealed the presence of three heterozygotes, supporting the presence of carriers in the wider population. Conclusions This is the first report of CCD in Hungarian Vizsla dogs and identifies a highly associated splice donor site mutation in SNX14, with an autosomal recessive mode of inheritance suspected. Electronic supplementary material The online version of this article (doi:10.1186/s12863-016-0433-y) contains supplementary material, which is available to authorized users.

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Cerebellar Abiotrophy Across Domestic Species

Erica Scott, Kevin Douglas Woolard, Carrie Finno … (2018)

Cerebellar abiotrophy (CA) is a neurodegenerative disorder affecting the cerebellum and occurs in multiple species. Although CA is well researched in humans and mice, domestic species such as the dog, cat, sheep, cow, and horse receive little recognition. This may be due to few studies addressing the mechanism of CA in these species. However, valuable information can still be extracted from these cases. A review of the clinicohistologic phenotype of CA in these species and determining the various etiologies of CA may aid in determining conserved and required pathways necessary for proper cerebellar development and function. This review outlines research approaches of studies of CA in domestic species, compared to the approaches used in mice, with the objective of comparing CA in domestic species while identifying areas for further research efforts.

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Purkinje cell apoptosis in arabian horses with cerebellar abiotrophy.

A. Blanco, R Moyano, J Vivo … (2006)

Purkinje cerebellar cells were studied in three Arabian horses aged between 6 and 8 months with clinical disorders in their movements, tremors and ataxia; the occurrence of apoptosis in this cell population was investigated by the (terminal deoxynucleotidyl transferase biotin-dUTP nick-end labelling (TUNEL) method. Both optical and electron microscopical images showed a scant number of Purkinje cells, most of them with morphological features of apoptosis such as condensation of the nucleus and cytoplasm as well as segregation and fragmentation of the nucleus into apoptotic bodies. The TUNEL technique revealed a substantial number (65%) of positive immunoreactive Purkinje cells.

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Journal

Journal ID (nlm-ta): J Vet Med Sci

Journal ID (iso-abbrev): J. Vet. Med. Sci

Journal ID (publisher-id): JVMS

Title: The Journal of Veterinary Medical Science

Publisher: The Japanese Society of Veterinary Science

ISSN (Print): 0916-7250

ISSN (Electronic): 1347-7439

Publication date (Electronic): 05 April 2019

Publication date (Print): May 2019

Volume: 81

Issue: 5

Pages: 750-752

Affiliations

[1) ]Laboratory of Veterinary Pathology, Graduate School of Life and Environmental Science, Osaka Prefecture University, Izumisano, Osaka 598-8531, Japan

[2) ]Kobe Municipal Suma Aqualife Park, Kobe, Hyogo 654-0049, Japan

[3) ]Kakogawa Animal Hospital, Kakogawa, Hyogo 675-0055, Japan

Author notes

[* ]Correspondence to: Kuwamura, M.: kuwamura@ 123456vet.osakafu-u.ac.jp

[#]

These authors contributed equally to this work.

Article

Publisher ID: 19-0089

DOI: 10.1292/jvms.19-0089

PMC ID: 6541849

PubMed ID: 30956256

SO-VID: 04313ca6-d3fe-4c4b-92b7-d7262a70b7b9

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This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License. (CC-BY-NC-ND 4.0: https://creativecommons.org/licenses/by-nc-nd/4.0/)

Late onset of cerebellar cortical degeneration in a Magellanic penguin ( Spheniscus magellanicus)

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Most cited references 14

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed

Cerebellar Abiotrophy Across Domestic Species

Purkinje cell apoptosis in arabian horses with cerebellar abiotrophy.

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