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FIGURE CAPTIONS
Figure 1 Pedigrees of studied kindred and axial FLAIR brain MRI images of patient 1.. A, Kindred of patient 1 (patient VII-7). A known family history of MNGIE (patients VII-1, VII-2) led to early diagnosis of patient 1 at eight years of age. The mother (individual VI-4) was a fully matched HLA (10/10) donor for her daughter; B, Kindred of three siblings: patient 2 (patient V-2), patients 3 (patient V-1) and patient 4 (patient V-6). All donors were fully HLA-matched related donors: individual V-7 for patient 2, individual IV-6 for patient 3 and individual V-17 for patient 4; C, Axial FLAIR brain MRI of patient 1 showing pre-HSCT abnormal high signal intensity of the deep and periventricular white matter, as well as foci of high intensity in both frontal lobes with sparing of the subcortical U-fibers. Brainstem, shown here at the level of middle cerebral peduncles, is unaffected; D, Six years post HSCT. Minimal progression visualized in the deep and periventricular white matter. New foci of high signal intensity were recognized in the brainstem; E, Thirteen years post HSCT. Progression of the abnormal signal intensity in the white matter of both hemispheres. Minimal progression in brainstem structures. Of note, it is possible that part of the progression of MRI changes may be related to improvement in image quality over the years.