Immunohistochemical and ultrastructural changes in the brain in probable adult glycogenosis type IV: Adult polyglucosan body disease

Folia Neuropathologica

Volumn 46, Issue 3, 2008, Pages 165-175

  Wierzba Bobrowicz, Teresa ^a   Lewandowska, Eliza ^a   Stepień, Tomasz ^a   Modzelewska, Joanna ^a  

^a INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

Adult polyglucosan body disease; Glycogenosis type IV; Ultrastructure

Indexed keywords

ADULT; ARTICLE; AUTOPSY; BRAIN EDEMA; CASE REPORT; CELL ULTRASTRUCTURE; CELLULAR DISTRIBUTION; CLINICAL FEATURE; COMA; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 4; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPEREMIA; HYPERGLYCEMIA; IMMUNOHISTOCHEMISTRY; LABORATORY TEST; LUNG EDEMA; PROTEIN CEREBROSPINAL FLUID LEVEL; TRANSMISSION ELECTRON MICROSCOPY; UNCONSCIOUSNESS;

EID: 55349093920     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

References (27)

1. Busard HLS, Gabreels-Festen AA, van't Hof MA, Renier WO, Gabreels FJ. Polyglucosan bodies in sural nerve biopsies. Acta Neuropathol 1990; 80: 554-557.
2. Cafferty MS, Lovelace RE, Hays AP, Servidei S, DiMauro S, Rowland LP. Polyglucosan body disease. Muscle Nerve 1991; 14: 102-107.
3. Goebel HH, Shin YS, Gutiotta F, Yokota T, Alroy J, Volt T, Haller P, Schulz A. Adult polyglucosan body myopathy. J Neuropath Exp Neurol 1992; 51: 24-35.
4. Gray F, Gherardi R, Marshall A, Janota I, Poirier J. Adult polyglucosan body disease (APED). J Neuropathol Exp Neurol 1988; 47: 459-474.
5. Klein CM, Bosch EP, Dyck PJ. Probable adult polyglucosan body disease. Mayo Clin Proc 2000; 75: 1327-1331.
6. Konstantinidou AE, Anninos H, Dertinger S, Nonni A, Petersen M, Karadimas C, Havaki S, Marinos E, Akman HO, DiMauro S, Patsouris E. Placental involvement in glycogen storage disease type IV. Placenta 2008; 29: 378-381.
7. Lee SY, Park JH, Kim SH, Kim TS, Kim WJ, Choi YC. A case of adult polyglucosan body disease. Yonsei Med J 2007; 48: 701-703.
8. Leel-Ossy L. New data on the ultrastructure of the corpus amylaceum (polyglucosan body). Pathol Oncol Res 2001; 7:145-150.
9. Lewandowska E, Wierzba-Bobrowicz T, Rola R, ModzelewskaJ, Stȩpjeń T, Ługowska A, Pasennik E, Ryglewicz D. Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe's disease): ultrastructural study Folia Neuropathol 2008; 46: 123-133.
10. McDonald TD, Faust PL, Bruno C, Di Mauro S, Goldman JE. Polyglucosan body disease simulating amyotrophic lateral sclerosis. Neurol 1993; 43: 785-790.
11. Mercier C, Whelan WJ. Further characterization of glycogen from type -IV glycogen-storage disease. Eur J Biochem 1973; 40: 221-223.
12. Milde P, Guccion JG, Kelly J, Locatelli E, Jones RV. Adult polyglucosan body disease: diagnosis by sural nerve and skin biopsy. Arch Pathol Lab Med 2001; 125: 519-522.
13. Mizutani T, Satoh J, Morimatsu Y. Axonal polyglucosan body in the ventral posterolateral nucleus of the human thalamus in relation to ageing. Acta Neuropathol 1987; 74: 9-12.
14. Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: A review of clinical, enzymatic and molecular studies. Curr Molec Med 2002; 2: 177-188.
15. Robitaile Y, Carpenter S, Karpati G, DiMauro S. 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 condition such as Lafora's disease and normal ageing. Brain 1980; 103: 315-336.
16. Schröder JM, May R, Shin YS, Sigmund M, Nase-Hüppmeier S. Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis). Acta Neurapathol 1993; 85: 419-430.
17. Shin YS. Glycogen storage disease: clinical, biochemical and molecular heterogeneity. Semin Pediatr Neurol 2006; 13: 115-120.
18. Sindern E, Ziemssen F, Ziemssen T, Podskarbi T, Shin Y, Brasch F, Müller KM, Vorgerd M. Adult polyglucosan body disease: A postomortern correlation study. Neurology 2003; 61: 263-265.
19. Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord 2004; 14: 253-260.
20. Trivedi JR, Wolfe GI, Nations SP, Burns DK, Bryan WW, Dewey RB. Adullt polyglucosan body disease associated with Lewy bodies and tremor. Arch Neurol 2003; 60: 764-766.
21. Valentine BA, Cooper BJ. Development of polyglucosan inclusions in skeletal muscle. Neuromuscul Disord 2006; 16: 603-607.
22. Vucic S, Pamphlett R, Wills EJ, Yiannikas C. Polyglucosan body disease myopathy: an unusual presentation. Muscle Nerve 2007; 35: 536-539.
23. Wang W, Lohi H, Skurat AV, DePaoli-Roach AA, Minassian BA, Roach PJ. Glycogen metabolism in tissues from a mouse model of Lafora disease. Arch Biochemistry Biophys. 2007; 457: 264-269.
24. Wierzba-Bobrowicz T, Lewandowska E, Ługowska A, Rola R, Stȩpień T, Ryglewicz D, Pasennik E. Adult glycogenosis type II (Pompe's disease): morphological abnormalities in muscle and skin biopsies compared with acid alpha-glucosidase activity. Folia Neuropathol 2007; 45: 179-186.
25. Wierzba-Bobrowicz T, Strońska-Kuś B. Adult polyglucosan body disease. Folia Neuropathol 1994; 32: 37-41.
26. Yasha TC, Anadure RK, Mahadevan A, Bhoi KK, Praveen K, Misra A, Das SK, Sinha S, Gayathri N, Santosh V, Swain M, Mathuranath PS, Senapati AK, Taly AK, Shankar SK. Seven cases of adult polyglucosan body disease (APBD): Expanding the clinical spectrum and the role of skin biopsy. Ann Indian Acad Neurol 2007; 10: 26-27.
27. Yoshimura N, Kaneko S, Yohimura I, Yamagata K, Ichinohe H, Hagiwara C, Kusumi T, Kudo H. Distribution and electron microscopical and immunohistochemical aspects of Lafora bodies in a Lafora patient with a 17-year clinical course. Neuropathol 1999; 19: 273-282.