Clinical Relevance of Brain Volume Changes in Patients with Cerebrotendinous Xanthomatosis
Abstract
Objective: To quantify total and regional brain damage in subjects with cerebrotendinous xanthomatosis (CTX) by using MR-based quantitative measures. Background: CTX is a rare, inherited disorder characterized by progressive neurological impairment. Appropriate therapy can slow disease progression. Measures of brain volume changes have been used in several neurological disorders due to their value in assessing disease outcome and monitoring patients' evolution. Methods: Twenty-four CTX patients underwent conventional MRI to measure total and regional brain volumes. In five CTX patients who started therapy at baseline, clinical and MRI examinations were repeated after 2 years. Clinical disability, overall cognitive performance and cerebellar function were evaluated using modified Rankin Scale (RS), Mini-Mental-Status Examination (MMSE) and cerebellar functional system score (CB-FSS). Results: Measures of normalized brain, cortical and cerebellar volumes were lower in CTX patients than in healthy controls (p<0.01). Instead, there were no differences in normalized white matter volumes between the two groups (p=0.1). At regional analysis, significant volume decrease was found in each cortical region (p<0.01 for all regions). Normalized cortical volumes correlated closely with age (r=-0.9, p<0.0001), RS (r=-0.65, p<0.001) and MMSE (r=-0.60, p<0.01). Normalized cerebellar volumes correlated closely with CB-FSS scores (r=-0.58, p<0.01). In the five CTX patients followed over time, the annual brain volume decrease was -1.1±0.2%. Conclusions: Cortical volume, rather than white matter volume, is diffusely decreased in CTX patients and correlates closely with the patients'clinical status. These data provide evidence for the presence of clinically relevant neuronal-axonal damage in the brains of CTX patients.
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