MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

Brogna, Claudia; Cristiano, Lara; Verdolotti, Tommaso; Pichiecchio, Anna; Cinnante, Claudia; Sansone, Valeria; Sconfienza, Luca Maria; Berardinelli, Angela; Garibaldi, Matteo; Antonini, Giovanni; Pane, Marika; Pera, Maria Carmela; Antonaci, Laura; Ficociello, Luana; Albamonte, Emilio; Tasca, Giorgio; Begliuomini, Chiara; Tartaglione, Tommaso; Maggi, Lorenzo; Govoni, Alessandra; Comi, Giacomo Pietro; Colosimo, Cesare

doi:10.1007/s00415-019-09646-w

Cited by 37 publications

(61 citation statements)

References 39 publications

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“…The patterns of muscle involvement and relative muscle sparing were comparable with previous reports such as the m. adductor longus, M. gracilis, m. sartorius, and the short head of the m. biceps femoris and m. semimembranosus. 12,13,18,19,42 Strikingly, the severe involvement of the quadriceps did not impede some patients with type 3 to walk. Selective vulnerability of muscle is a hallmark of SMA but whether this is explained by anatomical or biochemical (ie, related to SMN deficiency) 43,44 differences between muscle groups remains to established.…”

Section: Discussionmentioning

confidence: 94%

“…9 Most imaging studies in SMA have focused on a qualitative appreciation of muscle, grading fat infiltration visually. [10][11][12][13][14][15][16][17][18][19][20] Quantitative MRI (qMRI) can complement qualitative evaluation of muscles and has shown promising results in other neuromuscular disorders, such as Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophies (LGMD). 21,22 Quantitative MRI in SMA has not been studied in detail.…”

Section: Introductionmentioning

confidence: 99%

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Quantitative MRI of skeletal muscle in a cross‐sectional cohort of patients with spinal muscular atrophy types 2 and 3

et al. 2020

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The aim of this study was to document upper leg involvement in spinal muscular atrophy (SMA) with quantitative MRI (qMRI) in a cross‐sectional cohort of patients of varying type, disease severity and age. Thirty‐one patients with SMA types 2 and 3 (aged 29.6 [7.6‐73.9] years) and 20 healthy controls (aged 37.9 [17.7‐71.6] years) were evaluated in a 3 T MRI with a protocol consisting of DIXON, T2 mapping and diffusion tensor imaging (DTI). qMRI measures were compared with clinical scores of motor function (Hammersmith Functional Motor Scale Expanded [HFMSE]) and muscle strength. Patients exhibited an increased fat fraction and fractional anisotropy (FA), and decreased mean diffusivity (MD) and T2 compared with controls (all P < .001). DTI parameters FA and MD manifest stronger effects than can be accounted for the effect of fatty replacement. Fat fraction, FA and MD show moderate correlation with muscle strength and motor function: FA is negatively associated with HFMSE and Medical Research Council sum score (τ = −0.56 and −0.59; both P < .001) whereas for fat fraction values are τ = −0.50 and −0.58, respectively (both P < .001). This study shows that DTI parameters correlate with muscle strength and motor function. DTI findings indirectly indicate cell atrophy and act as a measure independently of fat fraction. Combined these data suggest the potential of muscle DTI in monitoring disease progression and to study SMA pathogenesis in muscle.

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Section: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Quantitative MRI of skeletal muscle in a cross‐sectional cohort of patients with spinal muscular atrophy types 2 and 3

et al. 2020

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“…Recent studies have demonstrated the role of DTI in the detection and quantification of muscle fibers fat replacement [ 20 , Table 1 ]; FA is a parameter used to quantify the directional orientation of water molecules within the fibers; FA values are ranged between 0 and 1: in principle, when [ [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] ] tissues are intact, water is forced to move in a specific direction and the FA value is close to 1; unexpectedly patients with severe fat replacement show positive correlation with FA values and negative correlation with Apparent Diffusion Coefficient (ADC); a possible explanation is the artificial increase of FA values in patients with more than 40–45% fat muscle infiltration [ 25 ]. In our cases DTI showed that nusinersen treatment may have a positive effect on size, length and organization of fiber tracts raising the potential neurogenic rescue even in long-standing chronic SMA patients.…”

Section: Discussionmentioning

confidence: 99%

“…Only a few MRI studies have described the pattern of muscular involvement in the different subtypes of SMA [ [14] , [15] , [16] ]. More recently, Brogna and colleagues [ 17 ] described the pattern of muscular involvement on MRI and its large variability in both type 2 and type 3 SMA patients.…”

Section: Introductionmentioning

confidence: 99%

Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

Barp

Carraro

Albamonte

et al. 2020

Journal of the Neurological Sciences

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Introduction: The effects of nusinersen in adults with SMA rely on neuromotor function scales and qualitative assessments. There are limited clinical or imaging data on muscle changes over time. Methods: Two adult SMA patients underwent clinical assessments including measures of upper and lower limb function with Revised Upper Limb Module (RULM) and Hammersmith Function Motor Scale Expanded (HFMSE); both patients were also studied with whole-body muscle MRI (T1-weighted and Diffusion Tensor Imaging/DTI sequences), at baseline and after 10 and 24 months from the beginning of treatment with nusinersen. Results: After two years of treatment, HFMSE and RULM scores were stable in both patients. DTI sequences revealed an increased number, length and organization of muscle fiber tracks, and Fractional Anisotropy (FA) values showed a significant reduction after 10 and 24 months from baseline, in their corresponding maps. Discussion: Muscle DTI imaging seems to play an interesting role to monitor treatment effects over time in adult SMA patients.

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“…Each muscle was examined throughout its whole extension using the Mercuri classification system for evaluation of fatty infiltration [9,10]. At the thigh level, the muscles were grouped into anterior, posterior and medial compartments for global atrophy classification as previously described [11]. Total fatty infiltration (TFI) score was calculated for each patient and defined as the sum of fat infiltration in each muscle group of the lower limbs, ranging from 0 to 108, and total atrophy score (TAS) was defined as the sum of muscle atrophy in the three muscle compartments at thigh level, ranging from 0 to 9.…”

Section: Methodsmentioning

confidence: 99%

Clinical and radiological profile of patients with spinal muscular atrophy type 4

Souza

Pinto

Ricarte³

et al. 2020

Euro J of Neurology

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Background and purposeSpinal muscular atrophy (SMA) is the most important cause of motor neuron disease in childhood, and continues to represent the leading genetic cause of infant death. Adulthood‐onset SMA (SMA type 4) is rare, with few isolated cases reported. The objective of the present study was to describe a cohort of patients with SMA type 4.MethodsA cross‐sectional study was conducted to characterize clinical, genetic, radiological and neurophysiological features of patients with adulthood‐onset SMA. Correlation analysis of functional assessment with genetic, radiological and neurophysiological data was performed.ResultsTwenty patients with SMA type 4 were identified in a Brazilian cohort of 227 patients with SMA. The most common clinical symptom was limb‐girdle muscle weakness, observed in 15 patients (75%). The most frequent neurological findings were absent tendon reflexes in 18 (90%) and fasciculations in nine patients (45%). Sixteen patients (80%) had the homozygous deletion of exon 7 in the SMN1 gene, with 12 patients (60%) showing four copies of the SMN2 gene. The functional scales Hammersmith Functional Motor Scale Expanded, Amyotrophic Lateral Sclerosis Functional Rating Scale Revised, Revised Upper Limb Module and Spinal Muscular Atrophy Functional Rating Scale, as well as the six‐minute walk and the Time Up and Go tests showed a correlation with duration of disease. Motor Unit Number Index was correlated both with duration of disease and with performance in functional assessment. Radiological studies exhibited a typical pattern, with involvement of biceps femoris short head and gluteus minimus in all patients.ConclusionThis study represents the largest cohort of patients with SMA type 4 and provides functional, genetic, radiological and neurophysiological features that can be used as potential biomarkers for the new specific genetic therapies for SMA.

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MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

Cited by 37 publications

References 39 publications

Quantitative MRI of skeletal muscle in a cross‐sectional cohort of patients with spinal muscular atrophy types 2 and 3

Quantitative MRI of skeletal muscle in a cross‐sectional cohort of patients with spinal muscular atrophy types 2 and 3

Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

Clinical and radiological profile of patients with spinal muscular atrophy type 4

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