Fucosidosis in a domestic shorthair cat

Arrol, Lorna; Kerrins, Annette M.; Smith, Peter M.

doi:10.1016/j.jfms.2010.09.001

Cited by 6 publications

(5 citation statements)

References 24 publications

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“…Our intent was not to investigate the pathophysiological mechanisms of lysosomal storage diseases, including pathological findings of subcortical white matter in detail, because those have been discussed previously [1]–[9].…”

Section: Discussionmentioning

confidence: 99%

“…atrophy, that thinned the once normally developed callosum along with the progression of parenchymal atrophy, which was confirmed on a time course MRI follow up in one of the cases of neuronal ceroid lipofuscinosis (unpublished data). Furthermore, in a report of fucosidosis in a domestic shorthair cat (adult-onset), the corpus callosum and the rostral commissure were visualized, although they were thin and less clear than normal [9]. As described in the Introduction, a recently published study evaluated corpus callosal volume as a therapeutic marker of canine mucopolysaccharidosis type I with or without enzyme replacement therapy [10].…”

Section: Discussionmentioning

confidence: 99%

“…Several previous studies reported clinical, biochemical, pathologic, and imaging features of lysosomal storage diseases [1]–[9]. In particular, juvenile-onset lysosomal storage diseases, such as GM1 and GM2 gangliosidoses, show abnormalities of signal intensities in the subcortical white matter of the cerebrum on magnetic resonance imaging (MRI), which may be caused by hypomyelination and/or dysmyelination [4], [6], [8].…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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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“…A dog model in English Springer spaniels was characterized a long time ago, which closely resembles the human disease ( Abraham et al, 1984 ; Fletcher et al, 2014 ; Fletcher and Taylor, 2016 ; Hartley et al, 1982 ; Kondagari et al, 2011b ), and thus was used to establish BMT ( Taylor et al, 1992 , 1986 ) as well as enzyme replacement therapy (ERT) ( Kondagari et al, 2015 , 2011a ). Moreover, a domestic shorthair cat model lacking fucosidase activity has been reported, and shows cerebellar dysfunction and storage pathology ( Arrol et al, 2011 ).…”

Section: Introductionmentioning

confidence: 99%

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Wolf

Damme

D’Hooge

et al. 2016

Disease Models &Amp; Mechanisms

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Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates. Here, we report the generation of a fucosidosis mouse model, in which the gene for lysosomal α-L-fucosidase (Fuca1) was disrupted by gene targeting. Homozygous knockout mice completely lack α-L-fucosidase activity in all tested organs leading to highly elevated amounts of the core-fucosylated glycoasparagine Fuc(α1,6)-GlcNAc(β1-N)-Asn and, to a lesser extent, other fucosylated glycoasparagines, which all were also partially excreted in urine. Lysosomal storage pathology was observed in many visceral organs, such as in the liver, kidney, spleen and bladder, as well as in the central nervous system (CNS). On the cellular level, storage was characterized by membrane-limited cytoplasmic vacuoles primarily containing water-soluble storage material. In the CNS, cellular alterations included enlargement of the lysosomal compartment in various cell types, accumulation of secondary storage material and neuroinflammation, as well as a progressive loss of Purkinje cells combined with astrogliosis leading to psychomotor and memory deficits. Our results demonstrate that this new fucosidosis mouse model resembles the human disease and thus will help to unravel underlying pathological processes. Moreover, this model could be utilized to establish diagnostic and therapeutic strategies for fucosidosis.

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“…The canine and, more recently, the feline models for fucosidosis have been important tools to study the disease and evaluate therapeutic interventions (2, 42). In English Springer spaniel dogs with fucosidosis, preceding clinical signs, histological analysis of brains revealed vacuolation of neurons, astrocytes, and microglia.…”

Section: Leukodystrophies Targeted With Cell Transplantationmentioning

confidence: 99%

Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies

Miranda

Brites²,

Sousa³

et al. 2013

Cell Transplant

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Leukodystrophies are a group of disorders characterized by myelin dysfunction, either at the level of myelin formation or maintenance, that affect the central nervous system (CNS) and also in some cases, to a lesser extent, the peripheral nervous system (PNS). Although these genetic-based disorders are generally rare, all together they have a significant impact in the society, with an estimated overall incidence of 1 in 7,663 live births. Currently, there is no cure for leukodystrophies, and the development of effective treatments remains challenging. Not only leukodystrophies generally progress very fast, but also most are multifocal needing the simultaneous targeting at multiple sites. Moreover, as the CNS is affected, the blood-brain barrier (BBB) limits the efficacy of treatment. Recently, interest on cell therapy has increased, and the leukodystrophies for which metabolic correction is needed have become first-choice candidates for cell-based clinical trials. In this review, we present and discuss the available cell transplantation therapies in metabolic leukodystrophies including fucosidosis, X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Canavan disease, and Krabbe's disease. We will discuss the latest advances of cell therapy and its pitfalls in this group of disorders, taking into account, among others, the limitations imposed by reduced cell migration in multifocal conditions, the need to achieve corrective enzyme threshold levels, and the growing awareness that not only myelin but also the associated axonopathy needs to be targeted in some leukodystrophies.

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Fucosidosis in a domestic shorthair cat

Cited by 6 publications

References 24 publications

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

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

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease

Advances and Pitfalls of Cell Therapy in Metabolic Leukodystrophies

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