@article{359bb082b71644a18beb01f9634f7b53,
title = "Skeletal muscle MRI differentiates SBMA and ALS and correlates with disease severity",
abstract = "OBJECTIVE: To investigate the use of muscle MRI for the differential diagnosis and as a disease progression biomarker for 2 major forms of motor neuron disorders: spinal bulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS).METHODS: We applied quantitative 3-point Dixon and semiquantitative T1-weighted and short tau inversion recovery (STIR) imaging to bulbar and lower limb muscles and performed clinical and functional assessments in ALS (n = 21) and SBMA (n = 21), alongside healthy controls (n = 16). Acquired images were analyzed for the presence of fat infiltration or edema as well as specific patterns of muscle involvement. Quantitative MRI measurements were correlated with clinical measures of disease severity in ALS and SBMA.RESULTS: Quantitative imaging revealed significant fat infiltration in bulbar (p < 0.001) and limb muscles in SBMA compared to controls (thigh: p < 0.001; calf: p = 0.001), identifying a characteristic pattern of muscle involvement. In ALS, semiquantitative STIR imaging detected marked hyperintensities in lower limb muscles, distinguishing ALS from SBMA and controls. Finally, MRI measurements correlated significantly with clinical scales of disease severity in both ALS and SBMA.CONCLUSIONS: Our findings show that muscle MRI differentiates between SBMA and ALS and correlates with disease severity, supporting its use as a diagnostic tool and biomarker for disease progression. This highlights the clinical utility of muscle MRI in motor neuron disorders and contributes to establish objective outcome measures, which is crucial for the development of new drugs.",
keywords = "Amyotrophic Lateral Sclerosis/diagnostic imaging, Case-Control Studies, Cross-Sectional Studies, Diagnosis, Differential, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Muscle, Skeletal/diagnostic imaging, Muscular Atrophy, Spinal/diagnostic imaging, Prospective Studies, Severity of Illness Index",
author = "Uros Klickovic and Luca Zampedri and Sinclair, {Christopher D J} and Wastling, {Stephen J} and Karin Trimmel and Howard, {Robin S} and Andrea Malaspina and Nikhil Sharma and Katie Sidle and Ahmed Emira and Sachit Shah and Yousry, {Tarek A} and Hanna, {Michael G} and Linda Greensmith and Morrow, {Jasper M} and Thornton, {John S} and Pietro Fratta",
note = "Funding Information: The authors thank the study participants and families for participation. This study was supported by the UCLH NIHR Biomedical Research Centre, Kennedy's Disease UK (KD-UK), and the Institute of Neurology Kennedy's Disease Research Fund. U.K. is funded by KD-UK. P.F. is funded by an MRC/MNDA Clinician Scientist Fellowship, the Lady Edith Wolfson Fellowship scheme, and by the UCLH NIHR Biomedical Research Centre. L.G. is the Graham Watts Senior Research Fellow funded by the Brain Research Trust. Funding Information: This study was supported by the UCLH NIHR Biomedical Research Centre, Kennedy{\textquoteright}s Disease UK (KD-UK), and the Institute of Neurology Kennedy{\textquoteright}s Disease Research Fund. U.K. is funded by KD-UK. P.F. is funded by an MRC/MNDA Clinician Scientist Fellowship, the Lady Edith Wolfson Fellowship scheme, and by the UCLH NIHR Biomedical Research Centre. L.G. is the Graham Watts Senior Research Fellow funded by the Brain Research Trust. Publisher Copyright: {\textcopyright} 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.",
year = "2019",
month = aug,
day = "27",
doi = "10.1212/WNL.0000000000008009",
language = "English",
volume = "93",
pages = "e895--e907",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams and Wilkins",
number = "9",
}