1. Andersen DH (1950) Studies on glycogen disease with report of a case in which the glycogen was abnormal. In: Najjar VA (ed) Carbohydrate metabolism. Johns Hopkins Press. Baltimore, pp 28–42

   Google Scholar 

2. Baudrimont M, Gheradi R, Gray F, Lajarde S, Poirier J (1986) Adult polyglucosan body disease (APBD). Report of 3 cases. J Neuropathol Exp Neurol 45:366

   Google Scholar 

3. Brown BI, Brown DH (1966) Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc Natl Acad Sci USA 56:725–729

   Google Scholar 

4. Busard HLSM, Gabreëls-Festen AAWM, Renier WO, Gabreëls FJM, Joosten EMG, van't Hof MA, Rensing JBM (1991) Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. Ann Neurol 29:448–451

   Google Scholar 

5. Cafferty MS, Lovelace RE, Hays AP, Servidei S, DiMauro S, Rowland LP (1991) Polyglucosan body disease. Muscle Nerve 14:102–107

   Google Scholar 

6. Carpenter S, Karpati G, Andermann F, Jacob JC, Andermann E (1974) Lafora's disease: peroxisomal storage in skeletal muscle. Neurology 24:531–538

   Google Scholar 

7. Cornelio F, DiDonato S (1985) Myopathies due to enzyme deficiencies. J Neurol 232:329–340

   Google Scholar 

8. Craig JM, Uzman LL (1958) A familial metabolic disorder with storage of unusual polysaccharide complex. Pediatrics 22:20–32

   Google Scholar 

9. DiMauro S, Eastwood AB (1977) Disorders of glycogen and lipid-metabolism. Adv Neurol 17:123–142

   Google Scholar 

10. Ferguson IT, Mahon M, Cumming WJK (1983) Adult case of Andersen's disease — Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study. J Neurol Sci 60:337–351

    Google Scholar 

11. Ferrans VJ, Hibbs RG, Walsh JJ, Burch GE (1966) Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysaccharide. Report of a case with histochemical and electron microscopic studies. Am J Cardiol 17:457–469

    Google Scholar 

12. Gallen CC, Schultz P, Thomas CS, Jones M, Brown BI (1986) Glycogenosis IV: clinical and pathological findings in siblings. Ann Neurol 20:404

    Google Scholar 

13. Goebel HH, Reusche E, Aksu F, Voit T, Yokota T (1990) Morphological analysis of polyglucosan bodies in familial chilhood myopathy. Brain Dev 12:645

    Google Scholar 

14. Goebel HH, Shin YS, Gullota F, Yokota T, Alroy J, Voit T, Haller P, Schulz A (1992) Adult polyglucosan body myopathy. J Neuropathol Exp Neurol 51:24–35

    Google Scholar 

15. Gray F, Gherardi R, Marshall A, Janota I, Poirier J (1988) Adult polyglucosan body disease (APBD). J Neuropathol Exp Neurol 47:459–474

    Google Scholar 

16. Greene GM, Weldon DC, Ferrans VJ (1987) Juvenile polysaccharidosis with cardioskeletal myopathy. Arch Pathol Lab Med 111:977–982

    Google Scholar 

17. Greene HL, Brown BI, McClenathan DT, Agostini RM Jr, Taylor SR (1988) A new variant of type IV glycogenosis: deficiency of branching enzyme activity without apparent progressive liver disease. Hepathology 8:302–306

    Google Scholar 

18. Guerra AS, van Diggelen OP, Carneiro F, Tsou RM, Simoes S, Santos NT (1986) A juvenile variant of glycogenosis IV (Andersen's disease). Eur J Pediatr 145:179–181

    Google Scholar 

19. Holmes JM, Houghton CR, Woolf AL (1960) A myopathy presenting in adult life with features suggestive of glycogen storage disease. J Neurol Neurosurg Psychiatry 23:302–311

    Google Scholar 

20. Howell RR, Kabach MM, Brown BI (1971) Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. J Pediatr 78:638–642

    Google Scholar 

21. Hübner G, Pongratz D, Gokel M, Wiebecke B, Remberger K, Deufel T (1986) Glykogenose Typ II (M. Pompe) und Typ IV (M. Andersen) bei Jugendlichen und Erwachsenen. Verh Dtsch Ges Pathol 70:623

    Google Scholar 

22. Huijing F (1975) Glycogen metabolism and glycogen-storage diseases. Physiol Rev 55:609–658

    Google Scholar 

23. Ishihara T, Yokota T, Yamashita Y, Takahashi M, Kawano H, Uchino F, Kamei T, Matsumoto N, Kusunose Y, Yamada M (1987) Comparative study of the intracytoplasmic inclusions in Lafora's disease and type IV glycogenosis by electron microscopy. Acta Pathol Jpn 37:1591–1601

    Google Scholar 

24. Karpati G, Carpenter S, Wolfe LS, Sherwin A (1969) A peculiar polysaccharide accumulation in muscle in a case of cardioskeletal myopathy. Neurology 19:553–564

    Google Scholar 

25. Komure O, Ichikawa K, Tsutsumi A, Hiyama Fujioka A (1985) Intraaxonal polysaccharide storage myopathy. Acta neuropathol (Berl) 65:300–304

    Google Scholar 

26. Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, Abramsky O, Steiner I (1991) Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 30:655–662

    Google Scholar 

27. MacAdams AJ, Hug G, Bove KE (1974) Glycogen storage disease types I to X. Criteria for morphologic diagnosis. Hum Pathol 5:463–487

    Google Scholar 

28. McMaster KR, Powers JM, Hennigar GR, Wohltmann HJ, Farr GH (1979) Nervous system involvement in type IV glycogenosis. Arch Pathol Lab Med 103:105–111

    Google Scholar 

29. Mercier C, Whelan WJ (1970) The fine structure of glycogen from Type IV glycogen-storage disease. Eur J Biochem 16:579–583

    Google Scholar 

30. Nase-Hüppmeier S, Kunze KP, Sigmund M, Schröder JM, May R, Shin Y (1991) Demonstration of branching enzyme deficiency of cardiac muscle in type IV glycogenosis. Circulation 84 [Suppl]:1117

    Google Scholar 

31. Okamoto K, Klena JF, Hirano A (1982) A type of adult polyglucosan body disease. Acta Neuropathol (Berl) 58:73–77

    Google Scholar 

32. Pellissier JF, De Barsy T, Serratrice G, Toga M (1981) Polysaccharide (amylopectin-like) storage myopathy. Histochemical, ultrastructural and biochemical studies. Acta Neuropathol (Berl) [Suppl] VII:292–296

    Google Scholar 

33. Peress NS, DiMauro S, Roxburgh VA (1979) Adult polysaccharidosis. Clinical, ultrastructural, and biochemical findings. Arch Neurol 36:840–845

    Google Scholar 

34. Ramsey HJ (1965) Ultrastructure of corpora amylacea. J Neuropathol Exp Neurol 24:25–39

    Google Scholar 

35. Reed GB, Dixon JF, Neustern HB, Donnell GB, Landing BH (1968) Type IV glycogenosis: patient with absence of a branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glycosyl transferase. Lab Invest 19:546–547

    Google Scholar 

36. Reusche E, Aksu F, Goebel HH, Shin YS, Yokota T, Reichmann H (1992) A mild juvenile variant of type IV glycogenosis. Brain Dev 14:36–43

    Google Scholar 

37. Robitaille Y, Carpenter S, Karpati G, DiMauro S (1980) A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes. A report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing. Brain 103:315–336

    Google Scholar 

38. Rosai J, Lascano EF (1970) Basophilic (mucoid) degeneration of myocardium. A disorder of glycogen metabolism. Am J Pathol 61:99–112

    Google Scholar 

39. Schochet SS, McCormick WF, Zellweger H (1970) Type IV glycogenosis (amylopectinosis). Light and electron microscopic observations. Arch pathol 10:354–363

    Google Scholar 

40. Schochet SS, McCormick WF, Kovarsky K (1971) Light and electron microscopy of skeletal muscle in type IV glycogenosis. Acta Neuropathol (Berl) 19:137–144

    Google Scholar 

41. Schröder JM, May R, Shin Y, Sommer C, Kunze KP, Nase-Hüppmeier S (1991) New variant of polyglucosan body disease: late juvenile hereditary myopathy with complete brancher enzyme deficiency. Neuropathol Appl Neurobiol 17:517–518

    Google Scholar 

42. Servidei S, Riepe RE, Langston C, Tani LY, Bricker JT, Crisp-Lindgren N, Travers H, Armstrong D, DiMauro S (1987) Severe cardiopathy in branching enzyme deficiency. J Pediatr 111:51–56

    Google Scholar 

43. Shin YS (1990) Diagnosis of glycogen storage disease. J Inherited Metab Dis 13:419–434

    Google Scholar 

44. Shin YS, Steigüber H, Klemm P, Endres W, Schwab O, Wolff G (1988) Branching enzyme in erythrocytes. Detection of type IV glycogenosis homozygotes and heterozygotes. J Inherited Metab Dis 11 [Suppl 2]:252–254

    Google Scholar 

45. Sidbury JB, Mason J, Burns WB, Ruebner BH (1964) Type IV glycogenosis: report of a case proven by characterization of glycogen and studied at necropsy. Bull Johns Hopkins Hosp 111:157–181

    Google Scholar 

46. Suzuki K, David E, Kutschmann B (1971) Presenile dementia with “Lafora-like” intraneural inclusions. Arch Neurol 25:69–80

    Google Scholar 

47. Thompson AJ, Swash M, Cox EL, Ingram DA, Schwartz MS (1988) Polysaccharide storage myopathy. Muscle Nerve 2:349–355

    Google Scholar 

48. Torvik A, Dietrichson P, Svaar H, Hudgson P (1975) Myopathy with tremor and dementia: a metabolic disorder? Case report and postmortem study. J Neurol Sci 21:181–190

    Google Scholar 

49. Tunón T, Bengoechea O, Narbona J (1983) Glycogenosis with amylopectinoid deposits in a 13-year-old girl. Clin Neuropathol 7:100–104

    Google Scholar 

50. Vos AJM, Joosten EMG, Gabreëls-Festen AAWM (1983) Adult polyglucosan body disease: clinical and nerve biopsy findings in two cases. Ann Neurol 13:440–444

    Google Scholar 

51. Weis J, Schröder JM (1988) Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation. Clin Neuropathol 7:271–279

    Google Scholar 

52. Yokota T, Ishihara T, Kawano H, Yamishata Y, Uchino F, Kamei T, Kusunose Y, Matsumoto N (1987) Immunological homogeneity of Lafora body, corpora amylacea, basophilic degeneration in heart, and intracytoplasmic inclusions of liver and heart in type IV glycogenosis. Acta Pathol Jpn 37:941–946

    Google Scholar 

53. Zellweger H, Mueller S, Ionasescu V, Schochet SS, McCormick WF (1982) Glycogenosis IV: a new cause of infantile hypotonia. J Pediatr 80:842–844

    Google Scholar 

Download references