Adult Pompe disease: Clinical manifestations and outcome of the first Greek patients receiving enzyme replacement therapy

Clinical Neurology and Neurosurgery

Volumn 113, Issue 4, 2011, Pages 303-307

  Papadimas, G K ^a   Spengos, K ^a   Konstantinopoulou, A ^a   Vassilopoulou, S ^a   Vontzalidis, A ^a   Papadopoulos, C ^a   Michelakakis, H ^b   Manta, P ^a  

^a NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

^b Ag Sophia Children's Hospital   (Greece)

Author keywords

Adult Pompe disease; Enzyme replacement therapy

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; DISEASE SEVERITY; DRUG EFFICACY; ENZYME REPLACEMENT; FATIGUE; FEMALE; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 2; GREECE; HUMAN; MALE; MUSCLE STRENGTH; MUSCLE WEAKNESS; ONSET AGE; PHENOTYPE; RESPIRATORY FAILURE;

ADULT; AGE OF ONSET; AGED; ALPHA-GLUCOSIDASES; BIOPSY; ELECTROMYOGRAPHY; ENZYME REPLACEMENT THERAPY; ENZYMES; FEMALE; GAIT DISORDERS, NEUROLOGIC; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE II; GREECE; HUMANS; MALE; MIDDLE AGED; MUSCLE FATIGUE; MUSCLE STRENGTH; MUSCLE, SKELETAL; PHENOTYPE; RESPIRATORY FUNCTION TESTS; TREATMENT OUTCOME;

EID: 79954418519     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2010.12.005     Document Type: Article

References (20)

1. A.T. Van der Ploeg, and A.J. Reuser Pompe's disease Lancet 372 2008 1342 1353
2. W. Müller-Felber, R. Horvath, K. Gempel, T. Podskarbi, Y. Shin, and D. Pongratz Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients Neuromuscul Disord 17 2007 698 706 (Pubitemid 47362681)
3. U. Mellies, and F. Lofaso Pompe disease: a neuromuscular disease with respiratory muscle involvement Respir Med 103 2009 477 484
4. M.L. Hagemans, W.J. Hop, P.A. van Doorn, A.J. Reuser, and A.T. Van der Ploeg Course of disability and respiratory function in untreated late-onset Pompe disease Neurology 66 2006 581 583 (Pubitemid 43739893)
5. P.S. Kishnani, D. Corzo, M. Nicolino, B. Byrne, H. Mandel, and W.L. Hwu Recombinant human acid (alpha) glucosidase: major clinical benefits in infantile-onset Pompe disease Neurology 68 2007 99 109 (Pubitemid 46071892)
6. P.S. Kishnani, M. Nicolino, T. Voit, R.C. Rogers, A.C. Tsai, and J. Waterson Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease J Pediatr 149 2006 89 97 (Pubitemid 44081924)
7. A.T. Van der Ploeg, P.R. Clemens, D. Corzo, D.M. Escolar, J. Florence, and G.J. Groeneveld A randomized study of alglucosidase alfa in late-onset Pompe's disease N Engl J Med 362 2010 1396 1406
8. N.A. Van der Beek, M.L. Hagemans, A.J. Reuser, W.C. Hop, A.T. Van der Ploeg, and P.A. van Doorn Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease Neuromuscul Disord 19 2009 113 117
9. L.P. Winkel, M.L. Hagemans, P.A. van Doorn, M.C. Loonen, W.J. Hop, and A.J. Reuser The natural course of non-classic Pompe disease: a review of 225 published cases J Neurol 252 2005 875 884 (Pubitemid 41186956)
10. P.S. Kishnani, R.D. Steiner, D. Bali, K. Berger, B.J. Byrne, and L.E. Case Pompe disease diagnosis and management guideline Genet Med 8 2006 267 288 (Pubitemid 44297314)
11. N.G. Beratis, G.U. LaBadie, and R. Hirschhorn Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts J Clin Invest 62 1978 1264 1274 (Pubitemid 9075756)
12. W.L. Kuo, R. Hirshhorn, M.L. Huie, and K. Hirshhorn Localization and ordering of acid α-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization Hum Genet 97 1996 404 406 (Pubitemid 26057049)
13. M.A. Kroos, R.J. Pomponio, M.L. Hagemans, J.L. Keulemans, M. Phipps, and M. DeRiso Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype Neurology 68 2007 110 115 (Pubitemid 46071893)
14. M.A. Kroos, D. Van Leenen, J. Verbiest, A.J. Reuser, and M.M. Hermans Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene Clin Genet 53 1998 379 382 (Pubitemid 28252101)
15. M.A. Kroos, P. Manta, I. Mavridou, F. Muntoni, D. Halley, and R. van der Helm Seven cases of Pompe disease from Greece J Inherit Metab Dis 29 2006 556 563 (Pubitemid 44193271)
16. L.P. Winkel, J.M. Van den Hout, J.H. Kamphoven, J.A. Disseldorp, M. Remmerswaal, and W.F. Arts Enzyme replacement therapy in late onset Pompe's disease: a three year follow-up Ann Neurol 55 2004 495 502 (Pubitemid 38391966)
17. C.I. van Capelle, L.P. Winkel, M.L. Hagemans, S.K. Shapira, W.F. Arts, and P.A. van Doorn Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease Neuromuscul Disord 18 2008 447 452
18. T. Merk, T. Wibmer, C. Schumann, and S. Krüger Glycogen storage disease type II (Pompe disease) - influence of enzyme replacement therapy in adults Eur J Neurol 16 2009 274 277
19. S. Strothotte, N. Strigl-Pill, B. Grunert, C. Kornblum, K. Eger, and C. Wessig Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial J Neurol 257 2010 91 97
20. M.L. Hagemans, S.P. Van Shie, A.C. Janssens, P.A. van Doorn, A.J. Reuser, and A.T. Van der Ploeg Fatigue: an important feature of late onset Pompe disease J Neurol 254 2007 941 994