Bart Bartels

Results We analysed 72 patients with SMA type 1c and SMA type 2. Apart from one patient, all patients were older than 18 years (range 16–52) at start of treatment. Patients’ characteristics are summarised in Table 1. Patients’ baseline motor function scores were lower and the need for invasive ventilation was higher in more severe disease, as expected (p ≤ 0.027, Supplementary material V: Supplementary Table S2).

AD axial diffusivity BMI body mass index CSA cross-sectional area DTI diffusion tensor imaging FA fractional anisotropy IVIM intravoxel incoherent motion iWLLS: iterative weighted linear least squares NLLS nonlinear least squares RD radial diffusivity REKINDLE: robust extraction of kurtosis indices with linear estimation RPBM random permeable barrier model SE spin echo SNR signal-to-noise ratio STE stimulated echo 1 Introduction The random permeable barrier model (RPBM) links the...

1 Introduction Spinal muscular atrophy (SMA) is an important genetic cause of infant mortality and progressive motor impairment in children and adults if left untreated. SMA results from a loss of function of the Survival Motor Neuron 1 (SMN1) gene located on chromosome 5q, which leads to reduced intracellular levels of SMN protein [1].