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Table 2 PCA/CA-embedded MCCV classification results for the different models

From: 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

ID SMA type Correct classification Comments
SMA vs. CTRL (%) SMA 1 vs. SMA 2 vs. SMA 3 vs. CTRL SMA 1/2 vs. SMA 3 vs. CTRL
SMA006 1 100 59% (*) 38% (*)  
SMA007 1 100 100% 41% (*)  
SMA008 1 4 95% 99%  
SMA009 1 100 80% (*) 92% (*)  
SMA010 1 100 100% 15% (*)  
SMA011 1 100 11% (*) 85% (*) Mild disease course, borderline SMA 2
SMA012 1 100 58% (41% SMA 2) 100%  
SMA013 1 100 2% (98% SMA 2) 100% Mild disease course, 3 SMN2 copies, no respiratory involvement, possible age bias
SMA014 1 100 90% (*) 99%  
SMA015 2 0 0% (*) 0% (*) Mild disease course, borderline SMA 3, good response to Nusinersen (standing and first steps) as potential sign for residual motor capacity
SMA016 2 100 0% (79% SMA 1) 53% (*)  
SMA017 2 100 78% 97%  
SMA018 2 100 0% (95% SMA 3) 16% (83% SMA 3) Severe disease course, mild intellectual disability
Multiple comorbidities: pulmonary hypertension due to Ebstein anomaly, epileptic seizures
Medication: sildenafil, valproic acid
SMA019 2 100 28% (46% SMA 1) 96% Severe disease course with orthopedic involvement: severe neuromyopathic scoliosis, spondylodesis
SMA020 2 34 0% (45% SMA 1) 100% Orthopedic involvement: severe neuromyopathic scoliosis, spondylodesis
SMA021 2 100 15% (83% SMA 1) 100% Respiratory involvement: s/p recurrent pneumonias, s/p pleural empyema requiring surgical intervention
Orthopedic involvement: severe neuromyopathic scoliosis, spondylodesis with recurrent bacterial infections requiring 11 surgical revisions resulting in extensive scarring of the back
SMA022 2 100 92% 100%  
SMA023 3a 100 96% 63% (32% CTRL) Mild disease course
SMA024 3a 100 0% (49% CTRL) 0% (83% SMA 1/2) Mild disease course
SMA025 3a 100 27% (*) 59% (40% CTRL) Mild disease course
SMA026 3a 100 16% (47% CTRL) 0% (85% CTRL) Mild disease course
SMA027 3b 0 0% (*) 0% (*) Mild disease course, ambulatory
SMA028 3b 0 24% (*) 37% (*) Mild disease course, ambulatory
SMA029 3b 99 0% (80% CTRL) 0% (52% CTRL) Mild disease course, ambulatory
  1. The healthy control group is not listed since all samples were classified correctly. (*) wrong assignment with CTRL 2 m-19 years only
  2. CTRL, Control; SMA, spinal muscular atrophy; s/p, status post