Abstract
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 language | English |
|---|---|
| Pages (from-to) | 1189-1193 |
| Number of pages | 5 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 81 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 2010 |
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ASJC Scopus subject areas
- Clinical Neurology
- Psychiatry and Mental health
- Surgery
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Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis. / Guerrera, S.; Stromillo, M. L.; Mignarri, A.; Battaglini, M.; Marino, S.; Di Perri, C.; Federico, A.; Dotti, M. T.; De Stefano, N.
In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 81, No. 11, 11.2010, p. 1189-1193.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis
AU - Guerrera, S.
AU - Stromillo, M. L.
AU - Mignarri, A.
AU - Battaglini, M.
AU - Marino, S.
AU - Di Perri, C.
AU - Federico, A.
AU - Dotti, M. T.
AU - De Stefano, N.
PY - 2010/11
Y1 - 2010/11
N2 - 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
AB - 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
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UR - http://www.scopus.com/inward/citedby.url?scp=78649587875&partnerID=8YFLogxK
U2 - 10.1136/jnnp.2009.203364
DO - 10.1136/jnnp.2009.203364
M3 - Article
VL - 81
SP - 1189
EP - 1193
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 11
ER -