Pathological and Biochemical Studies of Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) in Juvenile Emus (Dromaius novaehollandiae)

Veterinary Pathology

Volumn 52, Issue 1, 2015, Pages 160-169

  Palmieri, C ^a   Giger, U ^b   Wang, P ^b   Pizarro, M ^c   Shivaprasad, H L ^d  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSIDAD COMPLUTENSE DE MADRID   (Spain)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

emu; histology; mucopolysaccharidosis type IIIB; nervous system; storage disease; transmission electron microscopy; N acetylglucosaminidase

Indexed keywords

ACETYLGLUCOSAMINIDASE; ALPHA-N-ACETYL-D-GLUCOSAMINIDASE; GLYCOSAMINOGLYCAN;

ANIMAL; BIRD DISEASE; BRAIN; CELL INCLUSION; DROMAIIDAE; GENE DELETION; METABOLISM; NERVE CELL; PATHOLOGY; SANFILIPPO SYNDROME; VETERINARY;

ACETYLGLUCOSAMINIDASE; ANIMALS; BIRD DISEASES; BRAIN; DROMAIIDAE; GLYCOSAMINOGLYCANS; INCLUSION BODIES; MUCOPOLYSACCHARIDOSIS III; NEURONS; SEQUENCE DELETION;

EID: 84920019473     PISSN: 03009858     EISSN: 15442217     Source Type: Journal    
DOI: 10.1177/0300985814529314     Document Type: Article

References (57)

1. Aronovich EL,Johnston JM,Wang P, et al.Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B.Genomics. 2001;74:299-305
2. Aydin M,Akarsu S,Kabakus N, et al.Mucopolysaccharidosis IIIB, cerebral vasculopathy and recurrent subdural hematoma.Indian Pediatr. 2006;43:437-440
3. Bayliss High OB,Lake BDThe Theory and Practice of Histological Techniques. Bancroft JDStevens A, ed. New York, NY: Churchill Livingstone; 1996:213-242.
4. Bermudez AJ,Freischutz B,Yu RK, et al.Heritability and biochemistry of gangliosidosis in emus (Dromaius novaehollandiae).Avian Dis. 1997;41:838-849
5. Bermudez AJ,Johnson GC,Vanier MT, et al.Gangliosidosis in emus (Dromaius novaehollandiae).Avian Dis. 1995;39:292-303
6. Berry HK,Spinanger J.A paper spot test useful in study of Hurler’s syndrome.J Lab Clin Med. 1960;55:136-138
7. Callahan WP,Lorincz AE.Hepatic ultrastructure in the Hurler syndrome.Am J Pathol. 1966;48:277-298
8. Cecchi F,Pacini S,Gulisano M, et al.Heparin/heparan sulfate anticoagulant glycosaminoglycans in human plasma of healthy donors: preliminary study on a small group of recruits.Blood Coagul Fibrinolysis. 2008;19 (5): 349-354
9. Cheville NFUltrastructural Pathology: The Comparative Cellular Basis of Disease. 2nd ed. Ames, IA: Wiley-Blackwell; 2009:857–873.Ames, IA: Wiley-Blackwell; 2009:857-873.
10. Cook HCThe Theory and Practice of Histological Techniques. Bancroft JDStevens A, ed. New York, NY: Churchill Livingstone; 1996:173-211.
11. Cotran RS,Kumar V,Collins TRobbins Pathologic Basis of Disease. 6th ed. Philadelphia, PA: Saunders; 1999:159–160.Cotran RS, ed. Philadelphia, PA: Saunders; 1999:159-160.
12. Doane FW,Anderson NElectron Microscopy in Diagnostic Virology: A Practical Guide and Atlas. Cambridge, UK: Cambridge University Press; 1987:10-34.
13. Ellinwood NM,Henthorn PS,Giger U, et al.Characterization of the normal cDNA for the canine N-acetyl-alpha-D-glucosaminidase gene, the gene defective in mucopolysaccharidosis IIIB.Am J Hum Genet. 2002;71 (suppl): 420
14. Ellinwood NM,Wang P,Skeen T, et al.Canine mucopolysaccharidosis IIIB: characterization of an inherited neuropathy recently identified in schipperkes.Am J Hum Genet. 2001;69 (suppl): 482
15. Ellinwood NM,Wang P,Skeen T, et al.A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs.J Inherit Metab Dis. 2003;26:489-504
16. Fischer A,Carmichael KP,Munnell JF, et al.Sulfaminidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).Pediatr Res. 1998;44 (1): 74-82
17. Freischutz B,Tokuda A,Ariga T, et al.Unusual gangliosidosis in emu (Dromaius novaehollandiae).J Neurochem. 1997;68:2070-2078
18. Giger U,Shivaprasad H,Wang P, et al.Mucopolysaccharidosis type IIIB (Sanfilippo B syndrome) in emus [abstract].Vet Pathol. 1997;14:473
19. Hadfield MG,Ghatak NR,Nakoneczna I, et al.Pathologic findings in mucopolysaccharidosis type IIIB (Sanfilippo’s syndrome B).Arch Neurol. 1980;37:645-650
20. Haskins M,Casal M,Ellinwood NM, et al.Animal models of mucopolysaccharidoses and their clinical relevance.Acta Paediatr Suppl. 2002;439:88-97
21. Haskins M,Giger UClinical Biochemistry of Domestic Animals. 6th ed. San Diego, CA: Academic Press; 2008:731–742.Kaneko JJHaevey JWBruss ML, ed. San Diego, CA: Academic Press; 2008:731-742.
22. Haust MD,Gordon BA.Ultrastructural and biochemical aspects of the Sanfilippo syndrome–type III genetic mucopolysaccharidosis.Connect Tissue Res. 1986;15:57-64
23. Hommes FATechniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual. New York, NY: Wiley-Liss; 1991:567-618.
24. Jolly R,Allan F,Collett M, et al.Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia.N Z Vet J. 2000;48:144-148
25. Jolly RD,Ehrlich PC,Franklin RJM, et al.Histological diagnosis of mucopolysaccharidosis IIIA in a wire-haired Dachshund.Vet Rec. 2001;148:564-567
26. Jolly RD,Hopwood JJ,Marshall NR, et al.Mucopolysaccharidosis type VI in a Miniature Poodle–type dog caused by a deletion in the arylsulphatase B gene.N Z Vet J. 2012;60 (3): 183-188
27. Jones MZ,Alroy J,Boyer PJ, et al.Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics.J Neuropathol Exp Neurol. 1998;57 (2): 148-157
28. Jones MZ,Alroy J,Downs-Kelly E, et al.Caprine mucopolysaccharidosis IIID: fetal and neonatal brain and liver glycosaminoglycan and morphological perturbations.J Mol Neurosci. 2004;24:277-291
29. Jones MZ,Alroy J,Rutledge JC, et al.Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics.J Neuropathol Exp Neurol. 1997;56:1158-1167
30. Karageorgos L,Hill B,Bawden MJ, et al.Bovine mucopolysaccharidosis type IIIB.J Inherit Metab Dis. 2007;30:358-364
31. Kim DY,Cho DY,Taylor HW.Lysosomal storage disease in an emu (Dromaius novaehollandiae).Vet Pathol. 1996;33:365-366
32. Kolodny EH,Zeng B,Viner TC, et al6th International Symposium on Lysosomal Storage Diseases. Stockholm, Sweden: TKT Europe: ; 2006:G9.
33. Komatsu M,Waguri S,Chiba T, et al.Loss of autophagy in the central nervous system causes neurodegeneration in mice.Nature. 2006;441:880-884
34. Lhotka JF.Some histochemical observations on periodic acid-amino-acid mechanisms.Nature. 1953;171:1123-1124
35. Li HH,Yu WH,Rozengurt N, et al.Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding α-N-acetylglucosaminidase.Proc Natl Acad Sci U S A. 1999;96:14505-14510
36. Matsui T,Kuroda S,Mizutani M, et al.Generalized glycogen storage disease in Japanese quail (Coturnix coturnix japonica).Vet Pathol. 1983;20:312-321
37. Maxie MG,Youssef SJubb, Kennedy & Palmer’s Pathology of Domestic Animals. 5th ed. Philadelphia, PA: Saunders; 2007:322–332.Maxie MG, ed. Philadelphia, PA: Saunders; 2007:322-332.
38. Moog U,van Mierlo I,van Schrojenstein Lantman-de Valk HM, et al.Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?.Am J Med Genet C Semin Med Genet. 2007;145C (3): 293-301
39. Neufeld EF,Muenzer JThe Online Metabolic & Molecular Bases of Inherited Disease. Valle DBeaudet ALVogelstein B, ed. New York, NY: McGraw-Hill Global Education Holdings; 2013:
40. Pearse AGEHistochemistry Theoretical and Applied. Pearse AGE, ed. Boston, MA: Little, Brown; 1961:398-446.
41. Pearse AGEHistochemistry, Theoretical and Applied. Pearse AGE, ed. Boston, MA: Little, Brown; 1961:347-365.
42. Pelled D,Lloyd-Evans F,Riebeling C, et al.Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin.J Biol Chem. 2003;278:29496-29501
43. Resnick JM,Whitley CB,Leonard AS, et al.Light and electron microscopic features of the liver in mucopolysaccharidosis.Hum Pathol. 1994;25:276-286
44. Settembre C,Fraldi A,Jahreiss L, et al.A block of autophagy in lysosomal storage disorders.Hum Mol Genet. 2008;17:119-129
45. Shivaprasad HL,Bradley G,Chin RP, et al.Pathology of mucopolysaccharidosis type III B (Sanfilippo B syndrome) in emus [abstract].Vet Pathol. 1997;14:498
46. Thompson JN,Jones MZ,Dawson G, et al.N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID).J Inherit Metab Dis. 1992;15:760-768
47. Valstar MJ,Ruijiter GJ,van Diggelen OP, et al.Sanfilippo syndrome: a mini-review.J Inherit Metab Dis. 2008;31 (2): 240-252
48. Van Hoof F.Mucopolysaccharidosis and mucolipidoses.J Clin Pathol Suppl (R Coll Pathol). 1974;8:64-93
49. van Schrojenstein-de Valk HM,van de Kamp JJ.Follow-up of seven adult patients with mild Sanfilippo B disease.Am J Med Genet. 1987;28 (1): 125-129
50. Villani GR,Gargiulo N,Faraonio R, et al.Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB.J Neurosci Res. 2007;85:612-622
51. Walkley SU,Baker HJ,Rattazzi MC.Initiation and growth of ectopic neuritis and meganeurites during postnatal cortical development in ganglioside storage disease.Brain Res Dev Brain Res. 1990;51 (2): 167-178
52. Walkley SU,Vanier MT.Secondary lipid accumulation in lysosomal disease.Biochim Biophys Acta. 2009;1793:726-736
53. Walkley SU.Pathobiology of neuronal storage disease.Int Rev Neurobiol. 1988;29:191-244
54. Weber B,Guo XH,Kleijer WJ, et al.Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.Eur J Hum Genet. 1999;7:34-44
55. Wessler E.Analytical and preparative separation of acidic glycosaminoglycans by electrophoresis in barium acetate.Anal Biochem. 1968;26:439-444
56. Yogalingam G,Pollard T,Gliddon B, et al.Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs.Genomics. 2002;79 (2): 150-153
57. Zeng BJ,Torres PA,Vinet TC, et al.Spontaneous appearance of Tay-Sachs disease in an animal model.Mol Genet Metab. 2008;95:59-65