Document Detail

Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis.
MedLine Citation:
PMID:  20972203     Owner:  NLM     Status:  MEDLINE    
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<0.01). Instead, there were no differences in normalised white matter volumes between the two groups (p=0.1). At regional analysis, a significant volume decrease was found in each cortical region (p<0.01 for all regions). Normalised 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). Normalised 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 patient's clinical status. These data provide evidence for the presence of clinically relevant neuronal-axonal damage in the brains of CTX patients.
S Guerrera; M L Stromillo; A Mignarri; M Battaglini; S Marino; C Di Perri; A Federico; M T Dotti; N De Stefano
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  81     ISSN:  1468-330X     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-25     Completed Date:  2010-12-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  England    
Other Details:
Languages:  eng     Pagination:  1189-93     Citation Subset:  IM    
Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
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MeSH Terms
Cerebellum / pathology*
Cerebral Cortex / pathology*
Follow-Up Studies
Magnetic Resonance Imaging*
Middle Aged
Nerve Fibers, Myelinated / pathology
Neurons / pathology
Neuropsychological Tests
Xanthomatosis, Cerebrotendinous / pathology*
Young Adult

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