Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis

S. Guerrera, M. L. Stromillo, A. Mignarri, M. Battaglini, S. Marino, C. Di Perri, A. Federico, M. T. Dotti, N. De Stefano

Research output: Contribution to journalArticlepeer-review


Objective: To quantify total and regional brain damage in subjects with cerebrotendinous xanthomatosis (CTX) using MR based quantitative measures. Background: CTX is a rare inherited disorder characterised 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: 24 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 the modified Rankin Scale (RS), Mini Mental Status Examination (MMSE) and cerebellar functional system score (CB-FSS). Results: Measures of normalised brain, cortical and cerebellar volumes were lower in CTX patients than in healthy controls (p

Original languageEnglish
Pages (from-to)1189-1193
Number of pages5
JournalJournal of Neurology, Neurosurgery and Psychiatry
Issue number11
Publication statusPublished - Nov 2010

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery


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