Figure 1
From: Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
Familial pedigree, brain MRI and proton MRS of a patient with homozygous DDHD2 mutation.
(A): Familial pedigree. * indicates members whose genomic DNA was available for this study (II-3 and II-6). Arrow indicates the proband (II-6). Homozygosity mapping and linkage analysis were performed using DNA from the proband and the unaffected sibling (II-3). (B): Brain MRI of II-6 at 69 years of age. Axial and sagittal sections of fluid-attenuated inversion recovery image are shown. Mild atrophy of the cerebellum and the thinness of the splenium of the corpus callosum (arrow) are observed. (C): Schematic presentation of DDHD2 and mutations. The thick arrow indicates the location of the mutation in the patient. (D): Proton MRS obtained from left thalamus, at a magnetic field of 3 Tesla (echo time 30 ms and 144 ms, respectively). Arrows indicate the pathologic lipid peak at 1.3 ppm. mI: myo-inositol, Cho: choline, Cr: creatine, NAA: N-acetylaspartate.
