<p>Molecular analysis of the intronic <span class="html-italic">FGF14</span> GAA repeat locus. (<b>A</b>) Agarose gel electrophoresis (1.5%): lanes 7, 8, 12, and 15, >250 repeat units. (<b>B</b>) Automatic capillary electrophoresis (QSep100) of four patients: Patient #8 (20/280 repeat units); Patient #7 (8/277 repeat units); Patient #15 (43/197 repeat units), and Patient #5 (18/87 repeat units). (<b>C</b>) Fragment length analysis of fluorescent PCR amplification products of four patients. (<b>D</b>) Results of RP-PCR for the expanded (GAA)n repeat of four patients demonstrated a characteristic ‘sawtooth’ pattern on the electropherogram.</p> Full article ">Figure 2
<p>Brain MRI study. (<b>A</b>) Saggital T2 FLAIR and (<b>B</b>) coronal T2 images in Patient #5 show moderate cerebellar atrophy involving both hemispheres and anterior and superior vermis. (<b>C</b>) Sagittal and (<b>D</b>) axial T2 images in Patient #7 show moderate cerebellar and brainstem atrophy.</p> Full article ">Figure 3
<p>Typical video-oculographic findings in SCA27B patients. (<b>A</b>) Horizontal vHIT in Patient #8. Grey curves represent the velocities of passive head rotation over time, and black curves represent eye velocity. Note the presence of both covert and overt saccades. Gain at 60th ms for rightward impulses was 0.65, and 0.57 for leftward ones. (<b>B</b>) Insufficient VOR suppression in Patient #8. The cy an curve represents horizontal head rotation over time, and the blue curve represents horizontal vestibular eye movements that the patient was unable to fully suppress, which resulted in a gain of 0.24. (<b>C</b>) Saccadic pursuit in Patient #1. Grey and black curves represent changes in stimulus and eye position over time, respectively. (<b>D</b>) Horizontal eye movements during rightward (upper part) and leftward (lower part) fixation in Patient #5. Horizontal gaze-evoked nystagmus can be seen, with a slow phase velocity (SPV) of 2°/s for leftward and 0.8°/s for rightward gaze holding. (<b>E</b>) Combination of spontaneous downbeat nystagmus and excessive SWJ in Patient #2. The green curve stands for horizontal eye position over time, and orange for vertical. SPV for downbeat nystagmus was 3.5°/s. In (<b>B</b>,<b>D</b>,<b>E</b>), upward deflections represent movement either up or to the right, and downward deflections represent movement either down or to the left, depending on the color of the curve.</p> Full article ">