Fatal cardiomyopathy in adult polyglucosan body disease;Letale kardiomyopathie bei adulter polyglukosankörperkrankheit

Pathologe

Volumn 23, Issue 3, 2002, Pages 229-234

  Postler, E ^a   Sindern, E ^a   Vorgerd, M ^a   Schmitz, I ^a   Malin, J P ^a   Muller K M ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

Author keywords

Adult polyglucosan body disease; Cardiomyopathy; Glycogen branching enzyme; Glycogenosis type IV

Indexed keywords

1,4 ALPHA GLUCAN BRANCHING ENZYME; GLUCOSE DERIVATIVE; POLYGLUCOSAN; UNCLASSIFIED DRUG;

ADULT; AUTOPSY; CARDIOMYOPATHY; CASE REPORT; CLINICAL EXAMINATION; CONFERENCE PAPER; FATALITY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 4; HEART FAILURE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE;

EID: 0036941058     PISSN: 01728113     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00292-002-0533-5     Document Type: Conference Paper

References (25)

1. Bao Y, Kishani P, Wu JY Chen YT (1996) Hepatic and neuromuscular forms of glykogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 97:941-948
2. Bigio EH, Weiner MF, Bonte FJK, White CL (1997) Familial dementia due to adult polyglucosan body disease. Clin Neuropathol 16:227-234
3. Boulan-Predseil P, Vital A, Brochet B, Darriet D, Henry P, Vital C (1995) Dementia of frontal lobe type due to adult polyglusocan body disease. J Neurol 242:512-516
4. Bornemann A, Besser R, Shin YS, Goebel HH (1996) A mild adult myopathic variant of type IV glykogenosis. Neuromusc Disord 6:95-99
5. Busard HLSM, Gabrieëls-Festen AAWM, Renier WO, Gabrieëls JM, Joosten EMG, van't Hoff MA, Rensing JBM (1991) Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy. Ann Neurol 29:448-451
6. Bruno C, Servidei S, Shanske S et al. (1993) Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol 33:88-93
7. Bruno C, DiRocco M, Lamba LD et al. (1999) A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromusc Dis 9:403-407
8. Cavanagh JB (1999) Corpora amylacea and the family of polyglucosan diseases. Brain Res Brain Research Rev 29:265-295
9. Ferrans VJ, Hibbs RG, Walsh JF, Burch GE (1966) Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillary polysaccharide. Am J Cardiol 17:4S7-469
10. Goebel HH, Shin SY, Gulotta F et al. (1992) Adult polyglucosan body myopathy. J Neuropathol Exp Neurol 52:24-35
11. Gray F, Gherardi R, Marshall A, Janota I, Poirier J (1988) Adult polyglukosan body disease (APBD). J Neuropath Exp Neurol 47:459-474
12. Lossos A, Barash V, Soffer D et al. (1991) Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 30:655-662
13. 329Ser Mutation in the glycogen-branching enzyme gene. Ann Neurol 44:867-872
14. McMaster KR, Powers JM, Hennigar GR, Wohltmann HJ, Farr GH (1979) Nervous system involvement in type IV glykogenosis. Arch Pathol Lab Med 103:105-111
15. Nase S, Kunze KP, Sigmund N, Schroeder JM, Shin Y, Hanrath P (1995) A new variant of type IV glykogenosis with primary cardiac manifestation and complete branching enzyme deficiency. In-vivo detection by heart muscle biopsy. Eur Heart J 16:1698-1704
16. Okamoto K, Llena JF, Hirano A (1982) A type of adult polyglucosan body disease. Acta Neuropathol 58:73-77
17. Rifai Z, Klitzke M, Tawil R, Kazee AM, Shanske S, DiMauro S, Griggs RC (1994) Dementia of adult polyglucosan body disease. Arch Neurol 51:90-94
18. 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. Brain 103:315-336
19. Schochet SS, McCormick WF, Zellweger H (1970) Type IV Glycogenosis (Amylopektinosis). Arch Pathol 90:354-363
20. Servidei S, Riepe RE, Langston C et al. (1987) Severe cardiopathy in branching enzyme deficiency. Am J Cardiol 111:51-56
21. Sindern E, Patzold T, Vorgerd M, Shin YS, Podbarski T, Schroder JM, Malin JP (1999) Adulte Polyglukosankörperkrankheit. Nervenarzt 70:745-749
22. Suzuki K, David E, Kutschmann B (1971) Presenile dementia with "Lafora-like" intraneuronal inclusions. Arch Neurol 25:69-80
23. Torvik A, Dietrichson P, Svaar H, Hudgson P (1974) Myopathy with tremor and dementia: a metabolic disorder? J Neurol Sci 21:181-190
24. Weis J, Schroeder JM (1988) Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of cases associated with polyglucosan body accumulation. Clin Neuropathol 7:271-279
25. Ziemssen F, Sindern E, Schröder JM et al. (2000) Novel missense mutations in the glycogenbranching enzyme gene in adult polyglucosan body disease. Ann Neurol 47:536-540