Fig. 1

Presentations of corpus callosum in normal and SPG11-related HSP-TCC patients in midline sagittal brain MRI. a T1-weighted MR image shows normal corpus callosum anatomy in a 24-year-old female (1: rostrum, 2: genu, 3: body, 4: splenium). T1-weighted MR images of patient 1 (b) and patient 2 (c) with SPG11 homozygous mutation show thinning of whole corpus callosum most pronounced in the genu and body parts, relatively spared in the splenium. Pedigrees and mutation segregation of the families with SPG11 mutations: patient 1 (d), patient 2 (e), patient 3 (f), and patient 4 (g). The squares indicate male; circles indicate female; filled shape, affected. M: mutation; +: wild type respectively. Chromatograms showing the mutations and respective wild type sequences are shown below the pedigrees