Polyglucosan body disease myopathy: An unusual presentation

Muscle and Nerve

Volumn 35, Issue 4, 2007, Pages 536-539

  Vucic, Steve ^a   Pamphlett, Roger ^b   Wills, Edward J ^c   Yiannikas, Con ^d  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c Renal Medicine   (Australia)

^d Hospital Concord   (Australia)

Author keywords

Amyotrophic lateral sclerosis; Complex repetitive discharges; Fibrillation potentials; Glycogen storage disorder; Myopathy; Polyglucosan body disease

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GLYCOGEN STORAGE DISEASE; HUMAN; LIMB WEAKNESS; MUSCLE BIOPSY; MYOPATHY; NEUROPATHOLOGY; NEUROPHYSIOLOGY; PERONEUS NERVE PARALYSIS; POLYGLUCOSAN BODY DISEASE; PRIORITY JOURNAL;

AMYOTROPHIC LATERAL SCLEROSIS; DIAGNOSIS, DIFFERENTIAL; FEMALE; GLUCANS; GLYCOGEN; GLYCOGEN STORAGE DISEASE; HUMANS; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUSCLE FIBERS; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DISEASES; REFLEX, ABNORMAL;

EID: 34047210640     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20720     Document Type: Article

References (18)

1. Bao Y, Kishnani P, Wu JY, Chen YT. Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 1996;97:941-948.
2. Barohn RJ, McVey AL, DiMauro S. Adult acid maltase deficiency. Muscle Nerve 1993;16:672-676.
3. Bornemann A, Besser R, Shin YS, Goebel HH. A mild adult myopathic variant of type IV glycogenosis. Neuromuscul Disord 1996;6:95-99.
4. Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, et al. Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol 1993;33:88-93.
5. Bruno C, DiRocco M, Lamba LD, Bado M, Marino C, Tsujino S, et al. A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromuscul Disord 1999;9:403-407.
6. Calore EE, Pellissier JF, Figarella-Branger D, de Barsy T, Pouget J, Serratrice G. Polysaccharide amylopectin-type storage myopathy. Rev Neurol (Paris) 1992;148:696-703.
7. Dubois B, Slachevsky A, Litvan I, Pillon B. The FAB: a Frontal Assessment Battery at bedside. Neurology 2000;55:1621-1626.
8. Goebel HH, Shin YS, Gullotta F, Yokota T, Alroy J, Voit T, et al. Adult polyglucosan body myopathy. J Neuropathol Exp Neurol 1992;51:24-35.
9. Lossos A, Barash V, Sofjfer D, Argov Z, Gomori M, Ben-Nariah Z, et al. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 1991;30:655-662.
10. Lossos A, Meiner Z, Barash V, Soffer D, Schlesinger I, Abramsky O, et al. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene. Ann Neurol 1998;44:867-872.
11. McDonald TD, Faust PL, Bruno C, DiMauro S, Goldman JE. Polyglucosan body disease simulating amyotrophic lateral sclerosis. Neurology 1993;43:785-790.
12. Moses SW, Parvari R. The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. Curr Mol Med 2002;2:177-188.
13. Robitaille 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 conditions such as Lafora's disease and normal ageing. Brain 1980;103:315-336.
14. Sancho S, Navarro C, Fernandez JM, Dominguez C, Ortega A, Roig M, et al. Skin biopsy findings in glycogenosis III: clinical, biochemical, and electrophysiological correlations. Ann Neurol 1990;27:480-486.
15. Tonin P, Tomelleri G, Vio M, Rizzuto N. Polyglucosan body myopathy: a new case. Neuromuscul Disord 1992;2:419-422.
16. Torvik A, Dietrichson P, Hudgson P. Myopathy with tremor and dementia: a metabolic disorder? Case report with postmortem study. J Neurol Sci 1977;21:181-190.
17. Weis J, Schroder JM. Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation. Clin Neuropathol 1988;7:271-279.
18. Ziemssen F, Sindern E, Schroder JM, Shin YS, Zange J, Kilimann MW, et al. Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease. Ann Neurol 2000;47:536-540.