Recognition and diagnosis of lysosomal storage diseases in the cat and dog

Journal of Veterinary Internal Medicine

Volumn 16, Issue 2, 2002, Pages 133-141

  Skelly, Barbara J ^a   Franklin, Robin J M ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Animal models; Genetic disease; Neurologic disease

Indexed keywords

ANIMAL; ANIMAL DISEASE; BIOPSY; CAT; CAT DISEASE; DOG; DOG DISEASE; ENZYMOLOGY; GENETICS; LYSOSOME; LYSOSOME STORAGE DISEASE; PATHOLOGY; REVIEW;

ANIMALS; BIOPSY; CAT DISEASES; CATS; DOG DISEASES; DOGS; LYSOSOMAL STORAGE DISEASES; LYSOSOMES;

EID: 0036512459     PISSN: 08916640     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1939-1676.2002.tb02344.x     Document Type: Review

References (68)

1. Herrtage ME. Canine fucosidosis. Vet Ann 1988,28:223-227.
2. Blakemore WF. A case of mannosidosis in the cat: Clinical and histopathological findings J Small Anim Pract 1986;27:447-455.
3. Jezyk PF, Haskins ME, New man LR. Alpha-mannosidosis in a Persian cat. J Am Vet Med Assoc 1986;189:1483-1485.
4. Cummings JF, Wood PA, de Lahunta A, et al. The clinical and pathoiogic heterogeneity of feline α-mannosidosis. J Vet Intern Med 1988;2:163-170.
5. Walvoort HC. Glycogen storage disease type II in the Lapland dog. Vet Q 1985;7:187-190.
6. Sandstrom B, Westman J, Ockerman PA. Glycogenosis of the central nervous system in the cat. Acta Neuropathol 1969;14:194-200.
7. M1 gangliosidosis in a Siamese cat with beta galactosidase deficiency. Science 1971;174:838-839.
8. M1 gangliosidosis (type 1) in a cat. Biochem J 1986;235:151-158.
9. M1-gangliosidosis. Acta Neuropathol 1998;96:307-314.
10. M1 gangliosidosis in dogs with beta-galactosidase deficiency. Science 1985;229:470-472.
11. M1 gangliosidosis in a dog with beta-galactosidase deficiency. Science 1976;194:442-445.
12. M1 gangliosidosis in Portuguese water dogs. J Vet Intern Med 1989; 3:1-7.
13. M1 ganglioside using electrospray ionisation-tandem mass spectrometry. Acta Neuropathol 2000;100:409-414.
14. M2 ganghoside lysosomal storage disease in cats with beta-hexosaminidase deficiency. Science 1977;196:1014-1017.
15. M2-gangliosidosis (Sandhoff's disease) in Korat cats. J Clin Invest 1985;76:482-490.
16. Karbe E, Scheifer B. Familial amaurotic idiocy in male German shorthair pointers. Vet Pathol 1967;4:223-232.
17. M2 gangliosidosis in a Japanese spaniel. Acta Neuropathol 1985;67:247-253.
18. Van de Water NS. Jolly RD, Farrow BRH. Canine Gaucher disease - The enzymic defect. Aust J Exp Biol Med Sci 1979;57:551-554.
19. Wenger DA, Victoria T, Rafi MA, et al Globoid cell leukodystrophy in Cairn and West Highland white terriers. J Hered 1999;90: 138-142.
20. Johnson GR, Oliver JE, Selcer R. Globoid cell leukodystrophy in a beagle. J Am Vet Med Assoc 1975;167:380-384.
21. Zaki FA, Kay WJ. Globoid cell leukodystrophy in a miniature poodle. J Am Vet Med Assoc 1973;163:248-250.
22. Johnson KH. Globoid cell leukodystrophy in the cat. J Am Vet Med Assoc 1970;157:2057-2064.
23. Baker HJ, Wood PA, Wenger DA, et al. Sphingomychn lipidosis in a cat. Vet Pathol 1987;24:386-391
24. Yamagami T, Umeda M, Kamiya S, Sugiyama K. Neurovisceral sphingomyelinosis in a Siamese cat. Acta Neuropathol 1989;79:330-332.
25. Kuwamura M, Awakura T, Shimada A. Type C Niemann-Pick disease in a boxer dog. Acta Neuropathol 1993;85:345-348.
26. Lowenthal AC, Cummings JF, Wenger DA, et al. Feline sphingolipidosis resembling Niemann-Pick disease type C. Acta Neuropathol 1990;81:189-197.
27. Haskins ME. Jezyk PF, Desnick RJ, et al. Alpha-L-iduronidase deficiency in a cat: A model of mucopolysaccharidosis I. Pediatr Res 1979;13:1294-1297.
28. Spellacy E, Shull RM, Constantopoulis G, Neuteld EF. A canine model of human alpha-L-iduronidase deficiency. Proc Natl Acad Sci USA 1983;80:6091-6095.
29. Wilkerson MJ, Lewis DC, Marks SL, Prieur DJ. Clinical and morphologic features of mucopolysaccharide type II in a dog: Naturally occurring model of Hunter syndrome. Vet Pathol 1998;35:230-233
30. Fischer A, Carmichael KP, Munnell JF, et al. Sulphamidase deficiency in a family of Dachshunds: A canine model of mucopolysaccharidosis IIIA (Sanfilippo A). Pediatr Res 1998;44:74-82.
31. Haskins ME, Jezyk PF, Desnick RJ, Patterson DF. Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, arylsulfatase B-deficient MPS in the Siamese cat. Am J Pathol 1981,105:191-193.
32. Haskins ME, Aguirre GD, Jezyk PK et al. Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. Am J Pathol 1991;138:1553-1555.
33. Jolly RD, Palmer DN, Studdert VP, et al. Canine ceroid lipofuscinoses: A review and classification. J Small Anim Pract 1994;35: 299-306.
34. Green PD, Little PB. Neuronal ceroid-lipofuscin storage in Siamese cats. Can J Comp Med 1974;38:207-212.
35. Vellodi A, Cragg HM, Winchester BG, et al. Allogeneic bone marrow transplantation for fucosidosis. Bone Marrow Transplantation 1995;15:153-158.
36. Taylor RM, Farrow BR. Stewart GJ. Amelioration of clinical disease following bone marrow transplantation in fucosidosis-deficient dogs. Am J Med Genet 1992;42:628-632,
37. Ferrara ML, Taylor RM, Stewart GJ. Age at marrow transplantation is critical for successful treatment of canine fucosidosis. Transplantation Proc 1992;24.2282-2283.
38. Walkley SU, Thrall MA, Dobrenis K, et al. Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. Proc Natl Acad Sci USA 1994; 91.2970-2974.
39. Byers S, Crawley AC, Brumfield LK, et al. Enzyme replacement therapy in a feline model of MPS VI: Modification of enzyme structure and dose frequency Pediatr Res 2000;47:743-749.
40. Alroy J, Schelling SH, Thalhammer JG, et al. Adult onset lysosomal storage disease in a Tibetan terrier: Clinical, morphological and biochemical studies. Acta Neuropathol 1992;84:658-663
41. Walkley SU. Cellular pathology of lysosomal storage disorders. Brain Pathol 1998;8:175-193.
42. Suzuki K. Twenty-five years of the "psychosme hypothesis": A personal perspective of its history and present status Neurochem Res 1998;23:251-259.
43. Gompf RE. Scull RM, Breider MA, et al. Cardiovascular changes after bone marrow transplantation in dogs with mucopolysaccharidosis I. Am J Vet Res 1990;51:2054-2060.
44. Sammarco C, Weil M, Just C, et al. Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII. Bone Marrow Transplantation 2000;25:1289-1297.
45. Munana KR, Luttgen PL, Thrall MA, et al. Neurological manifestations of Niemann-Pick disease type C in cats. J Vet Intern Med 1994;8 117-121.
46. Maenhout T, Kint JA, Dacremont G, et al. Mannosidosis in a litter of Persian cats. Vet Rec 1988;122:351-354.
47. Cuddon PA, Higgins RJ, Duncan ID, et al. Polyneuropathy in feline Niemann-Pick disease. Brain 1989;112:1429-1443.
48. Jolly RD, Sutton RH, Smith RIE, Palmer DN. Ceroid-lipofuscinosis in miniature schnauzer dogs. Aust Vet J 1997;75:67
49. Riis RC, Cummings JF, Loew ER, de Lahunta A. Tibetan terrier model of ceroid lipofuscinosis. Am J Med Genet 1992;42:615-621.
50. Jolly RD, Hartley WJ, Jones BR, et al. Generalised ceroid-lipofuscinosis and brown bowel syndrome in cocker spaniel dogs. NZ Vet J 1994;42:236-239.
51. Sisk DB, Levesque DC, Wood PA, Styer EL. Clinical and pathologic features of ceroid lipofuscinosis in two Australian cattle dogs. J Am Vet Med Assoc 1990;197.361-364.
52. Keller CB, Larnarre J. Inherited lysosomal storage disease in an English springer spaniel. J Am Vet Med Assoc 1992;200:194-195.
53. Aguirre G, Stramm L, Haskins M. Feline mucopolysaccharidosis VI: General ocular and pigment epithelial pathology. Invest Ophthalmol Vis Sci 1983;24:991-1007.
54. M1-gangliosidosis: A clinical, morphologic, histochemical and biochemical comparison of two different models. Am J Pathol 1992;140:675-689.
55. Cozzi F, Vite CH, Wenger DA, et al. MRI and electrophysiological abnormalities in a case of canine globoid cell leukodystrophy. J Small Anim Pract 1998;39:401-405.
56. Blakemore WF, Mitten RW, Palmer AC, et al. Value of a nerve biopsy in diagnosis of globoid cell leukodystrophy in the dog. Vet Rec 1974;94:70-71.
57. Vicini DS, Wheaton LG, Zachary JF, Parker AJ. Peripheral nerve biopsy for diagnosis of globoid cell leukodystrophy in a dog. J Am Vet Med Assoc 1988;192:1087-1090.
58. Taylor RM, Farrow BRH, Healy PJ. Canine fucosidosis: Clinical findings. J Small Anim Pract 1987;28:291-300
59. McGowan JC, Haskins M, Wenger DA, Vite C. Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: Preliminary results. J Comput Assist Tomogr 2000;24:316-321.
60. Abraham D, Blakemore WF, Dell A, et al The enzymic defect and storage products in canine fucosidosis. Biochem J 1984;221:25-33.
61. Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al. Type C Niemann-Pick disease: Spectrum of phenotypic variation in disruption of intra-cellular LDL-derived cholesterol processing. Biochim Biophys Acta 1991;1096:328-337
62. Skelly BJ, Sargan DR, Winchester BG, et al. Genomic screening for fucosidosis in the English springer spaniel. Am J Vet Res 1999; 60:726-729.
63. Victoria T, Rafi MA, Wenger DA. Cloning of the canine Gal-C cDNA and identification of the mutation causing globoid cell leukodystrophy in West Highland white and cairn terriers. Genomics 1996;33:457-462.
64. Menon KP, Tieu PT, Neufeld EF. Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. Genomics 1992;12:763-768.
65. Ray J, Haskins ME, Ray K Molecular diagnostic tests for ascertainment of genotype at the mucopolysaccharide type VII locus in dogs. Am J Vet Res 1998;59:1092-1095.
66. Yogalingam G, Litjens T, Bielicki J, et al. Feline mucopolysaccharidosis type VI. Characterisation of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J Biol Chem 1996;271.27259-27265.
67. Lake BD. The role of histochemical investigations in metabolic disorders affecting the liver. J Inherited Metab Dis 1991;14:538-545.
68. Castagnaro M. Lectin histochemistry of the central nervous system in a case of feline α-mannosidosis. Res Vet Sci 1990;49:375-377.