Niemann-Pick Disease in a Poodle Dog

Bundza, A.; Lowden, J. A.; Charlton, Kenneth

doi:10.1177/030098587901600504

Cited by 42 publications

(3 citation statements)

References 20 publications

(8 reference statements)

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“…Affected dogs appear to have a normal appearing fundus though some exhibit postretinal blindness due to occipital lobe and optic radiation inflammatory lesions (41). Ocular findings were not described in 2 case reports of dogs affected by sphingomyelinosis (Niemann-Pick) types A (42) and C (43). Investigation of these conditions may be pursued through genetic testing, or via laboratories which perform metabolic testing.…”

Section: Lysosomal Storage Diseasesmentioning

confidence: 99%

Manifestations of systemic disease in the retina and fundus of cats and dogs

Beckwith-Cohen,

Petersen-Jones

2024

Front. Vet. Sci.

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The fundus is unique in that it is the only part of the body that allows for a noninvasive and uninterrupted view of vasculature and nervous tissue. Utilization of this can be a powerful tool in uncovering salient incidental findings which point to underlying systemic diseases, and for monitoring response to therapy. Retinal venules and arterioles allow the clinician to assess changes in vascular color, diameter, outline, and tortuosity. The retina and optic nerve may exhibit changes associated with increased or decreased thickness, inflammatory infiltrates, hemorrhages, and detachments. While some retinal manifestations of systemic disease may be nonspecific, others are pathognomonic, and may be the presenting sign for a systemic illness. The examination of the fundus is an essential part of the comprehensive physical examination. Systemic diseases which may present with retinal abnormalities include a variety of disease classifications, as represented by the DAMNIT-V acronym, for Degenerative/Developmental, Anomalous, Metabolic, Neoplastic, Nutritional, Inflammatory (Infectious/Immune-mediated/ischemic), Toxic, Traumatic and Vascular. This review details systemic illnesses or syndromes that have been reported to manifest in the fundus of companion animals and discusses key aspects in differentiating their underlying cause. Normal variations in retinal anatomy and morphology are also considered.

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Section: Lysosomal Storage Diseasesmentioning

confidence: 99%

Manifestations of systemic disease in the retina and fundus of cats and dogs

Beckwith-Cohen,

Petersen-Jones

2024

Front. Vet. Sci.

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“…Diseases resembling Niemann-Pick disease types A or C have been described in Siamese cats (174), poodle dogs (175) and mice (176 -181) with lipid storage patterns and sphingomyelinase activity levels relatively close to those observed in the human disorder.…”

Section: Animal Modelsmentioning

confidence: 99%

Review

1986

Clinical Chemistry and Laboratory Medicine

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In the flrst pari the properties of normal mammalian Sphingomyelinases are reviewed:The lysosomal acid sphingomyelinase is a polymeric glycoprotein (subunit M r between 28000 and 70000) which hydrolyses natural sphingomyelin, coloured and fluorescent semj-synthetic analogues (trinitrophenylaminolauryl-sphingomyelin and pyrenedecanoyl-sphingomyelin) and the synthetic analogue 2-N-hexadecanoylamido-nitrophenyl-phosphorylcholine. The suitability of these Substrates and of synthetic fluorescent derivatives of methylumbelliferone is discussed. The effect of lipids, detergents and other effectors on the enzyme activity is also described.The neutral sphingomyelinase from brain tissue, localized in cell membranes, has a high M r (160000 and 600000), is heat labile, hydrolyses sphingomyelin and its coloured and fluorescent analogues, but not 2-Nhexadecanoylamido-nitrophenyl-phosphorylcholine.A new method is available for determining enzyme activity in the intact cell through the utilization of endogenous or exogenous sphingomyelin äs Substrate.In the secondpart pf the review, the classification of Niemann-Pick disease, the characteristic features of each type and the biological topls used for the diagnosis are reported. Experimental models (animal models and cellular models in culture) are reviewed with a particular attention to a new model System, Epstein-Barr virus-transformed lymphoid cell lines. Sphingomyelinasen und Niemann-Pick'sche ErkrankungZusammenfassung: Im ersten Teil dieser Übersicht werden die Eigenschaften normaler Sphingomyelinasen von Säugern erörtert:Die lysosomale saure Sphingomyelinase ist ein polymeres Glykpprotein (relative Molekülmasse zwischen M r = 28000 und = 70 000). Sie hydrolysiert natürliches Sphingomyelin, farbige und fluoreszierende halbsynthetische Analoge (Trinitrophenyl-aminolauryl-sphingomyelin und Pyrendekanoyl-sphingomyelin) und das synthetische Analoge 2-N-Hexadekanoylamido-nitrophenyl-phosphorylcholin. Die Eignung dieser Substrate und der synthetischen fluoreszierenden Derivate von Methylumbelliferon wird erörtert. Die Wirkung von Lipiden, Detergentien und anderen Effektoren auf die katalytische Aktivität wird ebenfalls beschrieben.Die neutrale Sphingomyelinase aus Hirngewebe ist in der Plasmamembran lokalisiert, hat eine hohe relative Molekülmasse ( = 160000 und = 600000), ist hitzelabil, hydrolysiert Sphingomyelin und seine farbigen und fluoreszierenden Analogen, aber nicht 2-N-Hexadekanoylamido-nitrophenyl-phosphorylcholin. Eine neue Methode für die Bestimmung der katalytischen Aktivität in intakten Zellen mit endogenem oder exogenem Sphingomyelin als Substrat steht zur Verfügung.

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“…They include bovine a-mannosidosis (2) and Pompe disease (3); caprine (3-mannosidosis (4); feline GM1 gangliosidosis (5), GM2 gangliosidosis (6), Niemann-Pick disease (7), a-mannosidosis (8), mucopolysaccharidosis I (9), and mucopolysaccharidosis VI (10); canine GM1 gangliosidosis (11), Niemann-Pick disease (12), Gaucher disease (13), and Krabbe disease (14); and murine Krabbe disease (15) and Niemann-Pick disease (16).…”

mentioning

confidence: 99%

A canine model of human alpha-L-iduronidase deficiency.

Spellacy¹,

Shull²,

Constantopoulos³

et al. 1983

Proc. Natl. Acad. Sci. U.S.A.

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A disease discovered in three Plott Hound littermates was found to be associated with a profound and specific deficiency of a-L-iduronidase (mucopolysaccharide a-L-iduronohydrolase; EC 3.2.1.76) in fibroblasts and leukocytes. The pedigree was consistent with autosomal recessive inheritance. A markedly increased amount of dermatan sulfate and heparan sulfate was excreted in urine. Fibroblasts cultured from the skin of the affected dogs accumulated excessive asS-labeled mucopolysaccharide; this accumulation could be decreased to a normal level by exogenous human high-uptake a-L-iduronidase (Hurler corrective factor) as well as by secretions of normal human or canine fibroblasts. The correction was inhibited by mannose 6-phosphate. Maturation of a-L-iduronidase in normal canine fibroblasts followed the pathway previously observed in human fibroblasts; no crossreactive material was observed in the cells or in secretions from the fibroblasts of the affected dogs. The canine disorder thus resembles mucopolysaccharidosis I in all biochemical parameters tested; the clinical appearance of the animals is closest to HurlerScheie syndrome, a form of ac-L-iduronidase deficiency of intermediate severity. The animal model should prove valuable for therapeutic experiments.

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Niemann-Pick Disease in a Poodle Dog

Cited by 42 publications

References 20 publications

Manifestations of systemic disease in the retina and fundus of cats and dogs

Manifestations of systemic disease in the retina and fundus of cats and dogs

Review

A canine model of human alpha-L-iduronidase deficiency.

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