Autophagic vacuolar myopathies: what we have learned from the differential diagnosis of vacuoles in muscle biopsy

1. Wang CW, Klionsky DJ. The molecular mechanism of autophagy. Mol Med 2003; 9(3–4): 65–76.

2. Shintani T, Klionsky DJ. Autophagy in health and disease: a double-edged sword. Science 2004; 306(5698): 990–995.

3. Mizushima N. Autophagy: process and function. Genes Dev 2007; 21(22): 2861-2873.

4. Raben N, Shea L, Hill V, Plotz P. Monitoring autophagy in lysosomal storage disorders. Methods Enzymol 2009; 453: 417–449.

5. Ballabio A, Gieselmann V. Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta 2009; 1793(4): 684–696.

6. Chu CT. Autophagic stress in neuronal injury and disease. J Neuropathol Exp Neurol 2006; 65(5): 423–432.

7. Kurz T, Terman A, Gustafsson B, Brunk UT. Lysosomes and oxidative stress in aging and apoptosis. Biochim Biophys Acta 2008; 1780(11): 1291–1303.

8. Mizushima N, Yamamoto A, Matsui M, Yoshimori T, Ohsumi Y. In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker. Mol Biol Cell 2004; 15(3): 1101–1111.

9. Amalfitano A, Bengur AR, Morse RP et al. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med 2001; 3(2): 132–138.

10. Pompe J. Over idiopatische hypertrophie van het hart. Ned Tijdshr Geneeskd 1932; 76: 304-312.

11. Di RM, Buzzi D, Taro M. Glycogen storage disease type II: clinical overview. Acta Myol 2007; 26(1): 42–44.

12. Kroos M, Hoogeveen-Westerveld M, van der PA, Reuser AJ. The genotype-phenotype correlation in Pompe disease. Am J Med Genet C Semin Med Genet 2012; 160(1): 59–68.

13. Kroos MA, Pomponio RJ, Hagemans ML et al. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Neurology 2007; 68(2): 110–115.

14. Malinová V. Glykogenóza II. typu (GSD II, m. Pompe). Současné možnosti diagnostiky a terapie. Klinická kazuistika. Neurol prax 2010; 11(5): 326–330.

15. Ausems MG, Verbiest J, Hermans MP et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999; 7(6): 713–716.

16. Martiniuk F, Chen A, Mack A et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 1998; 79(1): 69–72.

17. Burton BK. Newborn screening for Pompe disease: an update, 2011. Am J Med Genet C Semin Med Genet 2012; 160(1): 8–12.

18. Chien YH, Lee NC, Huang HJ, Thurberg BL, Tsai FJ, Hwu WL. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. J Pediatr 2011; 158(6): 1023–1027.

19. Fukuda T, Ewan L, Bauer M et al. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 2006; 59(4): 700–708.

20. Kishnani PS, Corzo D, Nicolino M et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007; 68(2): 99–109.

21. Van der Ploeg AT, Clemens PR, Corzo D et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 2010; 362(15): 1396–1406.

22. Reuser AJ. Enzyme therapy in Pompe disease: questions remain. Mol Genet Metab 2012; 107 (3): 485-489.

23. Nicolino M, Byrne B, Wraith JE et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009; 11(3): 210–219.

24. Raben N, Jatkar T, Lee A et al. Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme. Mol Ther 2002; 6(5): 601–608.

25. Raben N, Wong A, Ralston E, Myerowitz R. Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten. Am J Med Genet C Semin Med Genet 2012; 160(1): 13–21.

26. Kishnani PS, Goldenberg PC, DeArmey SL et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab 2010; 99(1): 26–33.

27. Zhu Y, Jiang JL, Gumlaw NK et al. Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. Mol Ther 2009; 17(6): 954–963.

28. Parenti G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med 2009; 1(5): 268– 279.

29. Laforet P, Petiot P, Nicolino M et al. Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology 2008; 70(22): 2063–2066.

30. Sacconi S, Bocquet JD, Chanalet S, Tanant V, Salviati L, Desnuelle C. Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol 2010; 257(10): 1730–1733.

31. Nishino I, Fu J, Tanji K et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000; 406(6798): 906–910.

32. Tanaka Y, Guhde G, Suter A et al. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature 2000; 406(6798): 902–906.

33. Nishino I. Autophagic vacuolar myopathies. Curr Neurol Neurosci Rep 2003; 3(1): 64–69.

34. Danon MJ, Oh SJ, DiMauro S et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology 1981; 31(1): 51–57.

35. Sugie K, Yamamoto A, Murayama K et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002; 58(12): 1773–1778.

36. Schorderet DF, Cottet S, Lobrinus JA, Borruat FX, Balmer A, Munier FL. Retinopathy in Danon disease. Arch Ophthalmol 2007; 125(2): 231–236.

37. Sugie K, Noguchi S, Kozuka Y et al. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol 2005; 64(6): 513 –522.

38. Gilman AL, Chan KW, Mogul A et al. Hydroxychloroquine for the treatment of chronic graft-versus-host disease. Biol Blood Marrow Transplant 2000; 6(3A): 327–334.

39. Goldman FD, Gilman AL, Hollenback C, Kato RM, Premack BA, Rawlings DJ. Hydroxychloroquine inhibits calcium signals in T cells: a new mechanism to explain its immunomodulatory properties. Blood 2000; 95(11): 3460–3466.

40. Fox RI, Kang HI. Mechanism of action of antimalarial drugs: inhibition of antigen processing and presentation. Lupus 1993; 2(Suppl 1): 9–12.

41. Schultz KR, Su WN, Hsiao CC et al. Chloroquine prevention of murine MHC-disparate acute graft-versus-host disease correlates with inhibition of splenic response to CpG oligodeoxynucleotides and alterations in T-cell cytokine production. Biol Blood Marrow Transplant 2002; 8(12): 648–655.

42. Bondeson J, Sundler R. Antimalarial drugs inhibit phospholipase A2 activation and induction of interleukin 1beta and tumor necrosis factor alpha in macrophages: implications for their mode of action in rheumatoid arthritis. Gen Pharmacol 1998; 30(3): 357–366.

43. McChesney EW. Animal toxicity and pharmacokinetics of hydroxychloroquine sulfate. Am J Med 1983; 75(1A): 11–18.

44. Sundelin SP, Terman A. Different effects of chloroquine and hydroxychloroquine on lysosomal function in cultured retinal pigment epithelial cells. APMIS 2002; 110(6): 481–489.

45. Bolanos-Meade J, Zhou L, Hoke A, Corse A, Vogelsang G, Wagner KR. Hydroxychloroquine causes severe vacuolar myopathy in a patient with chronic graft-versus-host disease. Am J Hematol 2005; 78(4): 306–309.

46. Zámečník J, Veselý D, Jakubička B et al. Atrophy of type II fibres in myasthenia gravis muscle in thymectomized patients: steroid-induced change with prognostic impact. J Cell Mol Med 2009; 13(8B): 2008–2018.

47. Zámečník J, Veselý D, Jakubička B et al. Muscle lymphocytic infiltrates in thymoma-associated myasthenia gravis are phenotypically different from those in polymyositis. Neuromuscul Disord 2007; 17(11–12): 935–942.

48. Kuncová K, Sedláčková M, Vencovský J, Mann H, Wenchich L, Zámečník J. Inflammatory myopathy associated with statins: Report of 3 Cases. Mod Rheumatol 2013; in press.