GM1 gangliosidosis (type 1) in a cat

Abstract

A kitten with clinical and morphological symptoms of a neurovisceral lysosomal-storage disease has been shown to have a marked deficiency of acidic beta-D-galactosidase in the brain, kidney and spleen. Chromatography on concanavalin A-Sepharose and inhibition studies with 2,5-dihydroxymethyl-3,4-dihydroxypyrrolidine, a selective inhibitor of the neutral broad-specificity beta-D-galactosidase, have shown that the residual beta-D-galactosidase at pH 4.0 in the tissues of the affected cat is due to the neutral beta-D-galactosidase and that there is a complete deficiency of the acidic (lysosomal) beta-D-galactosidase. There is marked accumulation in all tissues and excretion in the urine of neutral oligosaccharides. Analysis of these oligosaccharides by fast-atom-bombardment mass spectrometry and g.l.c. suggests that they arise from the incomplete catabolism of N-glycans of glycoproteins. The ganglioside content of all the tissues is elevated, and it has been shown by t.l.c. that the concentration of a ganglioside fraction with a mobility similar to that of GM1 ganglioside is particularly increased. There is also some evidence of accumulation of glycosaminoglycans in the brain. The clinical symptoms, the complete deficiency of acidic beta-D-galactosidase and the storage products in visceral organs all suggest that this is a case of feline GM1-type gangliosidosis comparable with the severe infantile (Type 1) form of the disease in humans.

GM1-gangliosidosis in Alaskan Huskies: Clinical and Pathologic Findings

“…3. 28 [4][5][6][7][8][9] was counted using air-dried blood smears stained with May-Grünwald-Giemsa. Ophthalmologic examination and cerebrospinal fluid (CSF) analysis were performed and skeletal radiographs were obtained for dog Nos.…”

“…Corresponding age-, size-, and sex-matched dogs (Nos. [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] were used as controls. Samples of various tissues, including brain, spinal cord, eye, liver, kidney, urinary bladder, spleen, lymph nodes, lung, heart, intestine, pancreas, salivary gland, adrenal gland, thyroid gland, bones, bone marrow, and skin, were collected during necropsy and fixed in 10% formalin.…”

“…38 The disease has been described in a variety of species, including cats, cattle, sheep, mice, and humans. [1][2][3][4][5][6][7][8][9]12,14,16,17,[27][28][29]31,[33][34][35][36][37][38] Until now, the canine form has been found in English Springer Spaniels (ESS), 3,33 Portuguese Water Dogs (PWD), 3,35,36 mixed-breed Beagles, 34 and Alaskan Huskies. 28 In humans, the disorder is classified as infantile (type 1), juvenile (type 2), and adult (type 3) forms.…”

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

“…The disease has also been reported in non-pure breed domestic cats in the United Kingdom [3][4][5] and Japan [8,10]. In general, affected cats manifest neurological signs of progressive motor dysfunctions starting from 4 to 6 months of age and die prematurely by approximately 1 year of age.…”

“…As mentioned above, GM1 gangliosidosis has already been reported in non-pure breed domestic cats in the United Kingdom [3][4][5] and Japan [8,10], although molecular diagnoses have yet to be made. The disease in these domestic cats might have been caused by the c.1448G>C mutation.…”