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November 20, 2020Article

Skeletal muscle magnetic resonance biomarkers in GNE myopathy

View ORCID ProfileChia-Ying Liu, Jianhua Yao, William C. Kovacs, Joseph A. Shrader, Galen Joe, View ORCID ProfileRonald Ouwerkerk, Ami K. Mankodi, View ORCID ProfileWilliam A. Gahl, View ORCID ProfileRonald M. Summers, View ORCID ProfileNuria Carrillo
First published November 20, 2020, DOI: https://doi.org/10.1212/WNL.0000000000011231
Chia-Ying Liu
1Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, MD, USA
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  • ORCID record for Chia-Ying Liu
Jianhua Yao
1Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, MD, USA
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William C. Kovacs
1Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, MD, USA
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Joseph A. Shrader
2Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, MD, USA
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Galen Joe
2Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, MD, USA
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Ronald Ouwerkerk
3National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD, USA
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Ami K. Mankodi
4Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA
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William A. Gahl
5Medical Genetics Branch, National Human Genome Research Institute, NIH, USA.
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Ronald M. Summers
1Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, MD, USA
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Nuria Carrillo
5Medical Genetics Branch, National Human Genome Research Institute, NIH, USA.
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  • ORCID record for Nuria Carrillo
  • For correspondence: nuria.carrillo@nih.gov
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Citation
Skeletal muscle magnetic resonance biomarkers in GNE myopathy
Chia-Ying Liu, Jianhua Yao, William C. Kovacs, Joseph A. Shrader, Galen Joe, Ronald Ouwerkerk, Ami K. Mankodi, William A. Gahl, Ronald M. Summers, Nuria Carrillo
Neurology Nov 2020, 10.1212/WNL.0000000000011231; DOI: 10.1212/WNL.0000000000011231

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Abstract

Objectives To characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (1H-MRS).

Methods Skeletal muscle imaging of the lower extremities was performed in 31 patients with genetically confirmed GNE myopathy, including T1-weighted and STIR images, T1 and T2 mapping and 1H-MRS. Measures evaluated included longitudinal relaxation time (T1), transverse relaxation time (T2), and 1H-MRS fat fraction (FF). Thigh muscle volume was correlated with relevant measures of strength, function, and patient-reported outcomes.

Results The cohort was representative of a wide range of disease progression. Contractile thigh muscle volume ranged from 5.51% to 62.95%, and correlated with thigh strength (r = 0.91), the 6-minute walk test (r = 0.82), the adult myopathy assessment tool (r = 0.83), the activities-specific balance confidence scale (r = 0.65), and the inclusion body myositis functional rating scale (r = 0.62). Four stages of muscle involvement were distinguished by qualitative (T1W and STIR images) and quantitative methods: stage I) Unaffected muscle (T1 = 1,033 ± 74.2 ms, T2 = 40.0 ± 1.9 ms, FF = 7.4 ± 3.5%); Stage II) STIR hyperintense muscle with minimal or no fat infiltration (T1 = 1,305 ± 147 ms, T2 = 50.2 ± 3.5 ms, FF = 27.6 ± 12.7%); Stage III) Fat infiltration and STIR hyperintensity (T1 = 1,209 ± 348 ms, T2 = 73.3 ± 12.6 ms, FF = 57.5 ± 10.6%); and Stage IV) Complete fat replacement (T1 = 318 ± 39.9 ms, T2 = 114 ± 21.2 ms, FF = 85.6 ± 4.2%). 1H-MRS showed a significant decrease in intramyocellular lipid and trimethylamines (TMA) between stage I and II, suggesting altered muscle metabolism at early stages.

Conclusion MRI biomarkers can monitor muscle involvement and determine disease severity non-invasively in patients with GNE myopathy.

ClinicalTrials.gov Identifier NCT01417533.

  • Received June 11, 2020.
  • Accepted in final form September 30, 2020.
  • © 2020 American Academy of Neurology

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