The algorithm of patient classification.

<p>The algorithm of patient classification.</p

The <i>ABCD1</i> mutations identified in patients with ataxia.

<p><b>(A-B)</b> The pedigrees and electropherograms of the patients with AVALD identified in the present study. Open symbol: unaffected; filled symbol: affected; symbol with a dot: asymptomatic heterozygotes; symbol with a diagonal line: deceased; square: males; circle: females; arrow: the proband. <b>(C)</b> The <i>ABCD1</i> p.S108L mutation occurs at an evolutionarily highly conserved residue, as shown by aligning the amino acid sequences of ATP-binding cassette sub-family D member 1 protein orthologs from various species. <b>(D)</b> The 11 mutations in <i>ABCD1</i> identified in patients with AVALD in the literature (9 mutations in the upper panel) and in the present study (2 mutations in the lower panel).</p

Characteristics of patients with AVALD in the literature.

<p>Characteristics of patients with AVALD in the literature.</p

The algorithm of patient classification.

<p>The algorithm of patient classification.</p

The brain and spinal cord magnetic resonance images of patients with <i>ABCD1</i> mutations.

<p>T2-weighted images or fluid attenuation inversion recovery (FLAIR) images to illustrate white matter hyperintensities (WMH) in <b>(A)</b> patient A-II-1, <b>(B)</b> patient A-II-2, and <b>(C)</b> patient B-II-2. Spinal cord MRI showed <b>(D)</b> normal findings in patient A-II-1 and <b>(E)</b> mild atrophy of the thoracic spinal cord in patient B-II-2.</p

Comparison between the patients with AVALD and the ataxic patients with other etiologies.

<p>Comparison between the patients with AVALD and the ataxic patients with other etiologies.</p

Characteristics of AVALD patients in the present study.

<p>Characteristics of AVALD patients in the present study.</p