Home > Publications Database > Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. > print

001     139788
005     20240321220702.0
024 7 _ |a 0367-004x
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024 7 _ |a 10.1007/s00415-017-8711-9
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024 7 _ |a 0012-1037
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024 7 _ |a 0340-5354
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024 7 _ |a 0939-1517
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024 7 _ |a 0367-004X
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037 _ _ |a DZNE-2020-06110
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Catarino, Claudia B
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245 _ _ |a Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
260 _ _ |a Berlin
|c 2018
|b Springer73057
264 _ 1 |3 online
|2 Crossref
|b Springer Science and Business Media LLC
|c 2017-12-19
264 _ 1 |3 print
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|b Springer Science and Business Media LLC
|c 2018-02-01
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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520 _ _ |a Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 mutations. Treatment with chenodeoxycholic acid (CDCA) may slow the progression of the disease and reverse some symptoms in a proportion of patients. In a non-consanguineous Caucasian family, two siblings with CTX were evaluated before treatment and prospectively followed-up every 6 months after starting CDCA therapy, using systematic clinical examination, neuropsychological tests, laboratory tests, electroencephalography (EEG) and brain MRI, diffusion tensor imaging (DTI) and tractography. A 30-year-old patient and her 27-year-old brother were referred for progressive spastic paraparesis. Both had epilepsy, learning difficulties, chronic diarrhoea and juvenile-onset cataracts. CTX was diagnosed by increased cholestanol levels and compound heterozygosity for CYP27A1 mutations. Therapy with CDCA led to resolution of chronic diarrhoea, normalisation of serum cholestanol and EEG, and a progressive improvement in gait, cognition and seizure control. Before treatment, conventional brain MRI showed no CTX-related abnormalities for the proband and no cerebellar abnormalities for the brother, while DTI showed reduced fractional anisotropy (FA) and tract-density in the cerebellum and widespread cerebral reductions of FA in both patients, compared to a group of 35 healthy controls. Repeated DTI after starting therapy showed progressive increases of cerebellar tract density and of cerebral FA. In patients with CTX, therapy with CDCA may lead to significant clinical improvement, with normalisation of biochemical and electrophysiological biomarkers. DTI and tractography may detect changes when the conventional MRI is unremarkable and may provide potential neuroimaging biomarkers for monitoring treatment response in CTX, while the conventional MRI remains unchanged.
536 _ _ |a 344 - Clinical and Health Care Research (POF3-344)
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542 _ _ |i 2017-12-19
|2 Crossref
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650 _ 7 |a Gastrointestinal Agents
|2 NLM Chemicals
650 _ 7 |a Chenodeoxycholic Acid
|0 0GEI24LG0J
|2 NLM Chemicals
650 _ 7 |a CYP27A1 protein, human
|0 EC 1.14.15.15
|2 NLM Chemicals
650 _ 7 |a Cholestanetriol 26-Monooxygenase
|0 EC 1.14.15.15
|2 NLM Chemicals
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Anisotropy
|2 MeSH
650 _ 2 |a Brain: diagnostic imaging
|2 MeSH
650 _ 2 |a Brain: drug effects
|2 MeSH
650 _ 2 |a Chenodeoxycholic Acid: pharmacology
|2 MeSH
650 _ 2 |a Chenodeoxycholic Acid: therapeutic use
|2 MeSH
650 _ 2 |a Cholestanetriol 26-Monooxygenase: genetics
|2 MeSH
650 _ 2 |a Diffusion Tensor Imaging
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Gastrointestinal Agents: pharmacology
|2 MeSH
650 _ 2 |a Gastrointestinal Agents: therapeutic use
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Image Processing, Computer-Assisted
|2 MeSH
650 _ 2 |a Magnetic Resonance Imaging
|2 MeSH
650 _ 2 |a Male
|2 MeSH
650 _ 2 |a Mutation: genetics
|2 MeSH
650 _ 2 |a Prospective Studies
|2 MeSH
650 _ 2 |a Xanthomatosis, Cerebrotendinous: diagnostic imaging
|2 MeSH
650 _ 2 |a Xanthomatosis, Cerebrotendinous: drug therapy
|2 MeSH
650 _ 2 |a Xanthomatosis, Cerebrotendinous: genetics
|2 MeSH
700 1 _ |a Vollmar, Christian
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700 1 _ |a Küpper, Clemens
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700 1 _ |a Seelos, Klaus
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700 1 _ |a Gallenmüller, Constanze
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700 1 _ |a Bartkiewicz, Joanna
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700 1 _ |a Biskup, Saskia
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700 1 _ |a Hörtnagel, Konstanze
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700 1 _ |a Klopstock, Thomas
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773 1 8 |a 10.1007/s00415-017-8711-9
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|t Journal of Neurology
|v 265
|y 2017
|x 0340-5354
773 _ _ |a 10.1007/s00415-017-8711-9
|g Vol. 265, no. 2, p. 388 - 393
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|t Journal of neurology
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999 C 5 |2 Crossref
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