Enzyme replacement therapy in adult-onset glycogenosis II: Is quantitative muscle MRI helpful?

Muscle and Nerve

Volumn 40, Issue 1, 2009, Pages 122-125

  Pichiecchio, A ^a   Poloni, G U ^a   Ravaglia, S ^a   Ponzio, M ^a   Germani, G ^a   Maranzana, D ^a   Costa, A ^a   Repetto, A ^a   Tavazzi, E ^a   Danesino, C ^a   Moglia, A ^a   Bastianello, S ^a  

^a UNIVERSITY OF PAVIA   (Italy)

Author keywords

Acid maltase deficiency; Enzyme replacement therapy; ERT; Glycogenosis II; Muscle MRI; Pompe disease

Indexed keywords

RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; DRUG RESPONSE; ENZYME REPLACEMENT; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; MALE; MUSCLE STRENGTH; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; QUANTITATIVE DIAGNOSIS; TREATMENT DURATION;

AGE OF ONSET; AGED; ALPHA-GLUCOSIDASES; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; RECOMBINANT PROTEINS;

EID: 67650249525     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21304     Document Type: Article

References (29)

1. De Kerviler E, Leroy-Willig A, Duboc D, Eymard B, Syrota A. MR quantification of muscle fatty replacement in McArdle's disease. J Magn Res Imaging 1996;14:1137-1141. (Pubitemid 27124210)
2. Eliakim A, Barstow TJ, Brasel JA, Ajie H, Lee WN, Renslo R, et al. Effect of exercise training on energy expenditure, muscle volume, and maximal oxygen uptake in female adolescents. J Pediatr 1996;129:537-543. (Pubitemid 27490790)
3. Eliakim A, Burke GS, Cooper DM. Fitness, fatness, and the effect of training assessed by magnetic resonance imaging and skinfold-thickness measurements in healthy adolescent females. Am J Clin Nutr 1997;66:223-231. (Pubitemid 27360318)
4. Fischer D, Walter MC, Kesper K, Petersen JA, Aurino S, Nigro V, et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005;252:538-547. (Pubitemid 40768169)
5. Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol 2000;47:152-161. (Pubitemid 30078561)
6. Gardner-Medwin D. Management of muscular dystrophy. Physiotherapy 1977;63:46-51.
7. Gong YQ, Phoenix J, Kemp GJ, Garcia-Finana M, Frostick SP, Brodie DA, et al. Estimation of body composition in muscular dystrophy by MRI and stereology. J Magn Res Imaging 2000; 12:467-475.
8. Heshka S, Gallagher D, Heymsfield SB, Shen W, Punyanitya M. Precision of MRI body composition measurements. From Abstracts of 7th International Symposium "In vivo body composition studies." IJBCR 2005;3:O18. p 85.
9. Jungbluth H, Davis MR, Muller C, Counsell S, Allsop J, Chattopadhyay A, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 2004;14:785-790. (Pubitemid 39572398)
10. Jungbluth H, Sewry CA, Brown SC, Nowack KJ, Laing NG, Wallgren-Pettersson C, et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Disord 2001;11:35-41. (Pubitemid 32106880)
11. Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord 2004;14:779-784. (Pubitemid 39572397)
12. Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, et al. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 2006;149:89-97. (Pubitemid 44081924)
13. Leroy-Willig A, Willig TN, Henry-Feugeas MC, Frouin V, Marinier E, Boulier A, et al. Body composition determined with MR in patients with Duchenne muscular dystrophy, spinal muscular atrophy, and normal subjects. Magn Reson Imaging 1997;15:737-744. (Pubitemid 27398244)
14. Mercuri E, Bushby K, Ricci E, Birchll D, Pane M, Kinali M, et al. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. Neuromuscul Disord 2005;15:164-171. (Pubitemid 40202743)
15. Mercuri E, Cini C, Pichiecchio A, Counsell S, Allsop J, Zolkipli Z, et al. Muscle magnetic resonance imaging in patients with Ullrich congenital muscular dystrophy. Neuromuscul Disord 2003;13:554-557. (Pubitemid 36961344)
16. Mercuri E, Counsell S, Allsop J, Junghbluth H, Kinali M, Bonne G, et al. Selective muscle involvement on magnetic resonance imaging in autosomal-dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 2002;33:10-14. (Pubitemid 34273031)
17. Mercuri E, Lampe A, Allsopp J, Knight R, Pane M, Kinali M, et al. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlehem myopathy. Neuromuscul Disord 2005;15:303-310. (Pubitemid 40431936)
18. Mercuri E, Talim B, Moghdaszadeh B, Petit N, Brockington M, Counsell S, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 2002;12:631-638.
19. Mitsiopoulos N, Baumgartner RN, Heymsfield SB, Lyons W, Gallagher D, Ross R. Cadaver validation of skeletal muscle measurement by magnetic resonance imaging and computerized tomography. J Appl Physiol 1999;86:1097-1098.
20. Phoenix J. Betal D, Roberts N, Helliwell TR, Eduards RH. Objective quantification of muscle and fat in human dystrophic muscle by magnetic resonance image analysis. Muscle Nerve 1996;19:302-310. (Pubitemid 26069360)
21. Pichiecchio A, Uggetti C, Egitto MG, Berardinelli A, Orcesi S, Gorni OXT, et al. Quantitative MRI evaluation of body composition in patients affected by Duchenne muscular dystrophy. Eur Radiol 2002;12:2704-2709. (Pubitemid 36940381)
22. Pichiecchio A, Uggetti C, Ravaglia S, Egitto MG, Rossi M, Sandrini G, et al. Muscle MRI in adult-onset acid maltase deficiency. Neuromuscul Disord 2004;14:51-55. (Pubitemid 37498223)
23. Raben N, Fukuda T, Gilbert AL, De Jong D, Thurberg BL, Mattaliano RJ, et al. Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 2005;11:48-56. (Pubitemid 40011998)
24. Ross R, Léger L, Morris D, de Guise J, Guardo R. Quantification of adipose tissue by MRI: relationship with anthropometric variables. J Appl Physiol 1992;72:787-795.
25. Ross R, Pedwell H, Rissanen J. Effects of energy restriction and exercise on skeletal muscle and adipose tissue in women as measured by magnetic resonance imaging. Am J Clin Nutr 1995;61:1179-1185.
26. Sewry CA, Taylor J, Anderson LV, Ozawa E, Pogue R, Piccolo F, et al. Abnormalities in alpha-, beta- and gamma-sarcoglycan in patients with limb-girdle muscular dystrophy. Neuromuscul Disord 1996;6:467-474. (Pubitemid 27052791)
27. Sookhoo S, MacKinnon I, Bushby K, Chinnery PF, Birchall D. MRI for the demonstration of subclinical muscle involvement in muscular dystrophy. Clin Radiol 2007;62:160-165. (Pubitemid 46024209)
28. Thurberg BL, Lynch Maloney C, Vaccaro C, Afonso K, Tsai AC, Bossen E, et al. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest 2006;86:1208-1220. (Pubitemid 44789911)
29. Tindall B. Aids to the investigation of the peripheral nervous system. London; Medical Research Council; 1986.