Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

Tracey A Willis; Kieren G Hollingsworth; Anna Coombs; Marie-Louise Sveen; Soren Andersen; Tanya Stojkovic; Michelle Eagle; Anna Mayhew; Paulo Loureiro de Sousa; Liz Dewar; Jasper M Morrow; Christopher D J Sinclair; John S Thornton; Kate Bushby; Hanns Lochmuller; Michael G Hanna; Jean-Yves Hogrel; Pierre G Carlier; John Vissing; Volker Straub

doi:10.1371/journal.pone.0090377

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

Tracey A Willis, Kieren G Hollingsworth, Anna Coombs, Marie-Louise Sveen, Soren Andersen, Tanya Stojkovic, Michelle Eagle, Anna Mayhew, Paulo Loureiro de Sousa, Liz Dewar, Jasper M Morrow, Christopher D J Sinclair, John S Thornton, Kate Bushby, Hanns Lochmuller, Michael G Hanna, Jean-Yves Hogrel, Pierre G Carlier, John Vissing, Volker Straub

Department of Clinical Medicine

58 Citations (Scopus)

Abstract

We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C.A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1- weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p,0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.

Original language	English
Article number	e90377
Journal	PloS one
Volume	9
Issue number	2
Pages (from-to)	1-9
Number of pages	9
ISSN	1932-6203
DOIs	https://doi.org/10.1371/journal.pone.0090377
Publication status	Published - 28 Feb 2014

Keywords

Adipose Tissue, White
Adolescent
Adult
Cross-Sectional Studies
Europe
Female
Humans
Image Processing, Computer-Assisted
Magnetic Resonance Imaging
Male
Middle Aged
Muscle, Skeletal
Muscular Dystrophies, Limb-Girdle
Mutation
Proteins
Sex Factors

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Willis, T. A., Hollingsworth, K. G., Coombs, A., Sveen, M-L., Andersen, S., Stojkovic, T., Eagle, M., Mayhew, A., de Sousa, P. L., Dewar, L., Morrow, J. M., Sinclair, C. D. J., Thornton, J. S., Bushby, K., Lochmuller, H., Hanna, M. G., Hogrel, J-Y., Carlier, P. G., Vissing, J., & Straub, V. (2014). Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study. PloS one, 9(2), 1-9. [e90377]. https://doi.org/10.1371/journal.pone.0090377

Willis, TA, Hollingsworth, KG, Coombs, A, Sveen, M-L, Andersen, S, Stojkovic, T, Eagle, M, Mayhew, A, de Sousa, PL, Dewar, L, Morrow, JM, Sinclair, CDJ, Thornton, JS, Bushby, K, Lochmuller, H, Hanna, MG, Hogrel, J-Y, Carlier, PG, Vissing, J & Straub, V 2014, 'Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study', PloS one, vol. 9, no. 2, e90377, pp. 1-9. https://doi.org/10.1371/journal.pone.0090377

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abstract = "We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C.A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1- weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p,0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.",

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AU - Willis, Tracey A

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AU - Coombs, Anna

AU - Sveen, Marie-Louise

AU - Andersen, Soren

AU - Stojkovic, Tanya

AU - Eagle, Michelle

AU - Mayhew, Anna

AU - de Sousa, Paulo Loureiro

AU - Dewar, Liz

AU - Morrow, Jasper M

AU - Sinclair, Christopher D J

AU - Thornton, John S

AU - Bushby, Kate

AU - Lochmuller, Hanns

AU - Hanna, Michael G

AU - Hogrel, Jean-Yves

AU - Carlier, Pierre G

AU - Vissing, John

AU - Straub, Volker

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N2 - We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C.A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1- weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p,0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.

AB - We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C.A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1- weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p,0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.

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KW - Europe

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KW - Image Processing, Computer-Assisted

KW - Magnetic Resonance Imaging

KW - Male

KW - Middle Aged

KW - Muscle, Skeletal

KW - Muscular Dystrophies, Limb-Girdle

KW - Mutation

KW - Proteins

KW - Sex Factors

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DO - 10.1371/journal.pone.0090377

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SN - 1932-6203

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JO - PLoS Computational Biology

JF - PLoS Computational Biology

IS - 2

M1 - e90377

ER -

Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study

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Keywords

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