Identification of Bangladeshi Domestic Cats with GM1 Gangliosidosis Caused by the c.1448G&gt;C Mutation of the Feline &lt;i&gt;GLB1&lt;/i&gt; Gene: Case Study

Uddin, Mohammad M.; Hossain, Mohammad Alamgir; Rahman, Mohammad Mahbubur; Chowdhury, Morshedul Alam; Tanimoto, Takeshi; Yabuki, Akira; Mizukami, Keijiro; Chang, Hye-Sook; Yamato, Osamu

doi:10.1292/jvms.12-0307

Cited by 8 publications

(6 citation statements)

References 13 publications

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“…This mutation has been found in Siamese cats in the United States [ 12 ] and Japan [ 19 ] and in Korat cats in the United States, Canada and several European countries [ 3 , 20 ]. The same mutation was also found in non-purebred domestic cats [ 18 ]. In feline GM1 gangliosidosis caused by this mutation, affected cats generally manifest neurological signs of progressive motor dysfunctions starting from 4 to 6 months of age and die prematurely at approximately 1 year of age.…”

supporting

confidence: 57%

“…Feline GM1 gangliosidosis has been reported in Siamese cats in Japan [ 7 ] and the United States [ 2 ] and in Korat cats in Italy [ 6 ]. The disease also has been reported in non-purebred domestic cats in the United Kingdom [ 1 , 4 , 5 , 15 ], Japan [ 11 , 14 ] and Bangladesh [ 18 ]. To date, only one pathogenic mutation has been identified as a single nucleotide substitution from guanine to cytosine in exon 14 at nucleotide position 1448 (c.1448G>C) in the coding region of the feline GLB1 gene, resulting in the substitution of arginine with proline at amino acid position 483 (p.R483P).…”

mentioning

confidence: 92%

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GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan

Ueno

Yamato

Sugiura³

et al. 2016

The Journal of Veterinary Medical Science

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A male Japanese domestic cat with retarded growth in Hokkaido, Japan, showed progressive motor dysfunction, such as ataxia starting at 3 months of age and tremors, visual disorder and seizure after 4 months of age. Finally, the cat died of neurological deterioration at 9 months of age. Approximately half of the peripheral blood lymphocytes had multiple abnormal vacuoles. Magnetic resonance imaging showed bisymmetrical hyperintensity in the white matter of the parietal and occipital lobes in the forebrain on T2-weighted and fluid-attenuated inversion recovery images, and mild encephalatrophy of the olfactory bulbs and temporal lobes. The activity of lysosomal acid β-galactosidase in leukocytes was negligible, resulting in the biochemical diagnosis of GM1 gangliosidosis. Histologically, swollen neurons characterized by accumulation of pale, slightly granular cytoplasmic materials were observed throughout the central nervous system. Dysmyelination or demyelination and gemistocytic astrocytosis were observed in the white matter. Ultrastructually, membranous cytoplasmic bodies were detected in the lysosomes of neurons. However, genetic analysis did not identify the c.1448G>C mutation, which is the single known mutation of feline GM1 gangliosidosis, suggesting that the cat was affected with a new variant of the feline disease.

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supporting

confidence: 57%

mentioning

confidence: 92%

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan

Ueno

Yamato

Sugiura³

et al. 2016

The Journal of Veterinary Medical Science

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“…This disease is an autosomal recessive deficiency of β-galactosidase enzyme activity due to mutation of the GLB1 gene [11].…”

Section: Methodsmentioning

confidence: 99%

Magnetic Resonance Findings of the Corpus Callosum in Canine and Feline Lysosomal Storage Diseases

Hasegawa

Tamura²,

Nakamoto

et al. 2013

PLoS ONE

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Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis. Although most of those studies described the signal intensities of white matter in the cerebrum, findings of the corpus callosum were not described in detail. A retrospective study was conducted on MR findings of the corpus callosum as well as the rostral commissure and the fornix in 18 cases of canine and feline lysosomal storage diseases. This included 6 Shiba Inu dogs and 2 domestic shorthair cats with GM1 gangliosidosis; 2 domestic shorthair cats, 2 familial toy poodles, and a golden retriever with GM2 gangliosidosis; and 2 border collies and 3 chihuahuas with neuronal ceroid lipofuscinoses, to determine whether changes of the corpus callosum is an imaging indicator of those diseases. The corpus callosum and the rostral commissure were difficult to recognize in all cases of juvenile-onset gangliosidoses (GM1 gangliosidosis in Shiba Inu dogs and domestic shorthair cats and GM2 gangliosidosis in domestic shorthair cats) and GM2 gangliosidosis in toy poodles with late juvenile-onset. In contrast, the corpus callosum and the rostral commissure were confirmed in cases of GM2 gangliosidosis in a golden retriever and canine neuronal ceroid lipofuscinoses with late juvenile- to early adult-onset, but were extremely thin. Abnormal findings of the corpus callosum on midline sagittal images may be a useful imaging indicator for suspecting lysosomal storage diseases, especially hypoplasia (underdevelopment) of the corpus callosum in juvenile-onset gangliosidoses.

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“…The purpose of this study was to determine the proportion of transduced MNs all along the spinal cord and the profile of glial cell transduction in the whole CNS after intracisternal (IC) injection of self-complementary (sc) AAV9-CMV (cytomegalovirus)-GFP (green fluorescent protein) vectors in both neonatal and young cats, a large animal model in which different neurodegenerative diseases 22, 23, 24, 25, 26 and MN degeneration 27 have been described. Our results showed that scAAV9 injected in the CSF transduced the vast majority of MNs all along the spinal cord (84±5% in the cervical, 99±1% in the lumbar), whatever the age at the times of injection, with a limited off-target biodistribution of the vector.…”

Section: Introductionmentioning

confidence: 99%

Intracisternal delivery of AAV9 results in oligodendrocyte and motor neuron transduction in the whole central nervous system of cats

et al. 2014

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Systemic and intracerebrospinal fluid delivery of adeno-associated virus serotype 9 (AAV9) has been shown to achieve widespread gene delivery to the central nervous system (CNS). However, after systemic injection, the neurotropism of the vector has been reported to vary according to age at injection, with greater neuronal transduction in newborns and preferential glial cell tropism in adults. This difference has not yet been reported after cerebrospinal fluid (CSF) delivery. The present study analyzed both neuronal and glial cell transduction in the CNS of cats according to age of AAV9 CSF injection. In both newborns and young cats, administration of AAV9-GFP in the cisterna magna resulted in high levels of motor neurons (MNs) transduction from the cervical (84±5%) to the lumbar (99±1%) spinal cord, demonstrating that the remarkable tropism of AAV9 for MNs is not affected by age at CSF delivery. Surprisingly, numerous oligodendrocytes were also transduced in the brain and in the spinal cord white matter of young cats, but not of neonates, indicating that (i) age of CSF delivery influences the tropism of AAV9 for glial cells and (ii) AAV9 intracisternal delivery could be relevant for both the treatment of MN and demyelinating disorders.

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Identification of Bangladeshi Domestic Cats with GM1 Gangliosidosis Caused by the c.1448G>C Mutation of the Feline <i>GLB1</i> Gene: Case Study

Cited by 8 publications

References 13 publications

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan

Magnetic Resonance Findings of the Corpus Callosum in Canine and Feline Lysosomal Storage Diseases

Intracisternal delivery of AAV9 results in oligodendrocyte and motor neuron transduction in the whole central nervous system of cats

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