Data from: Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease

Objective: To perform a systematic analysis and scoring of brain MRI White Matter Hyperintensities (WMH) in adult-onset Krabbe disease. Methods: We retrospectively collected basic clinical data and the first available brain MRI from confirmed Krabbe patients with first clinical manifestations beyond 10 years old. Data were obtained from our reference center for lysosomal diseases (n=6) and from contacted authors of published articles describing adult-onset Krabbe patients (n=15). T2-weighted fluid-attenuated inversion recovery (FLAIR) images of each patient were analysed and scored using a radiological score of WMH in a single center. Results: The corticospinal tract was always affected by WMH (100% of patients), however with some distinctions along the tract: the pre-central gyrus (100%), corona radiata (95%) and posterior internal capsule (81%) were highly abnormal whereas the mesencephalon (57%), pons (52%) and medulla oblongata (5%) were less affected. WMH were also frequently present in the posterior lateral periventricular white matter (95%), optic radiations (86%), post central gyrus (71%), medial lemniscus (62%) and corpus callosum, especially in the isthmus (71%), whereas the genu was always normal. A few patients did not have the classical MRI pattern but extensive hyperintensities (n=3), or patchy distribution of hyperintensities mimicking an acquired etiology (n=2), or very subtle hyperintensities of the corticospinal tract (n=1). Conclusions: We specified the main locations of WMH, which were observed in the earliest stages of the disease and were also present in patients with atypical MRI pattern, highlighting the importance of radiological features to guide the diagnosis.Supplementary table 1. Individual clinical, radiological and genetic characteristicsSupplementary table 1.docxSupplementary table 2. Scored items and scoring methodSupplementary table 2.docxSupplementary table 3. Main characteristics of subjects included in the study (n=21)Supplementary table 3.doc