GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog

GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive, neurodegenerative lysosomal storage disease caused by simultaneous deficiencies of acid β-hexosaminidases A and B. Canine SD has so far been identified only in two purebreeds. In this article, we present the case of a 10 mo old, male dog of mixed breed that developed progressive neurological signs including ataxia, postural deficit, and visual deficits and finally died at the age of 21 mo. The dog was diagnosed with SD on the basis of the results of biochemical and histopathological analyses. This is the third report of canine SD and the first time it has been identified in a mixed breed.

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Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study

Frontiers in Veterinary Science ◽

10.3389/fvets.2021.802668 ◽

2021 ◽

Vol 8 ◽

Author(s):

Shinji Tamura ◽

Yumiko Tamura ◽

Yuya Nakamoto ◽

Daisuke Hasegawa ◽

Masaya Tsuboi ◽

...

Keyword(s):

Lysosomal Storage Disease ◽

Storage Disease ◽

Neuronal Degeneration ◽

Neuronal Ceroid Lipofuscinosis ◽

Clinical Signs ◽

Head Tilt ◽

Vestibular Nuclei ◽

Lysosomal Storage ◽

Gm2 Gangliosidosis ◽

Gm1 Gangliosidosis

Positioning head tilt is a neurological sign that has recently been described in dogs with congenital cerebellar malformations. This head tilt is triggered in response to head movement and is believed to be caused by a lack of inhibition of the vestibular nuclei by the cerebellar nodulus and ventral uvula (NU), as originally reported cases were dogs with NU hypoplasia. We hypothesized that other diseases, such as lysosomal storage diseases that cause degeneration in the whole brain, including NU, may cause NU dysfunction and positioning head tilt. Videos of the clinical signs of canine lysosomal storage disease were retrospectively evaluated. In addition, post-mortem NU specimens from each dog were histopathologically evaluated. Nine dogs were included, five with lysosomal storage disease, two Chihuahuas with neuronal ceroid lipofuscinosis (NCL), two Border Collies with NCL, one Shikoku Inu with NCL, two Toy Poodles with GM2 gangliosidosis, and two Shiba Inus with GM1 gangliosidosis. Twenty-eight videos recorded the clinical signs of the dogs. In these videos, positioning head tilt was observed in seven of nine dogs, two Chihuahuas with NCL, one Border Collie with NCL, one Shikoku Inu with NCL, one Toy Poodle with GM2 gangliosidosis, and two Shiba Inus with GM1 gangliosidosis. Neuronal degeneration and loss of NU were histopathologically confirmed in all diseases. As positioning head tilt had not been described until 2016, it may have been overlooked and may be a common clinical sign and pathophysiology in dogs with NU dysfunction.

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THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS (MUNGOS MUNGO)

Journal of Zoo and Wildlife Medicine ◽

10.1638/2017-0199.1 ◽

2018 ◽

Vol 49 (2) ◽

pp. 335-344

Author(s):

Julia Wimmershoff ◽

Kathrin Kuehni-Boghenbor ◽

Adrian C. Sewell ◽

Anna Oevermann ◽

Hany Farwanah ◽

...

Keyword(s):

Lysosomal Storage Disease ◽

Storage Disease ◽

Lysosomal Storage ◽

Gm2 Gangliosidosis ◽

Banded Mongoose ◽

Mungos Mungo

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Faculty Opinions recommendation of Oncogenic effects of germline variants in lysosomal storage disease genes.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.736262531.793563285 ◽

2019 ◽

Author(s):

Fowzan S Alkuraya

Keyword(s):

Lysosomal Storage Disease ◽

Storage Disease ◽

Disease Genes ◽

Lysosomal Storage ◽

Germline Variants

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Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease?

Nuklearmedizin ◽

10.3413/nukmed-0142 ◽

2008 ◽

Vol 47 (06) ◽

pp. 239-247 ◽

Cited By ~ 8

Author(s):

S. Kohlfürst ◽

H. J. Gallowitsch ◽

E. Kresnik ◽

P. Lind ◽

A. B. Mehta ◽

...

Keyword(s):

Bone Marrow ◽

Lysosomal Storage Disease ◽

Gaucher Disease ◽

Storage Disease ◽

Lysosomal Storage ◽

Scintigraphic Imaging ◽

Imaging Methods ◽

X Ray ◽

Deficient Activity

SummaryGaucher disease is the most prevalent inherited, lysosomal storage disease and is caused by deficient activity of the enzyme β-glucocerebrosidase. Bone and bone marrow alterations are frequent in the most prevalent non-neuronopathic form of Gaucher disease. Imaging of bone manifestations in Gaucher disease is performed by a variety of imaging methods, conventional X-ray and MRI as the most frequently and most important ones. However, different modalities of scintigraphic imaging have also been used. This article gives an overview on scintigraphic imaging with respect to bone manifestations in Gaucher disease discussing the advantages and limitations of scintigraphic imaging in comparison to other imaging methods.

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