000139788 001__ 139788
000139788 005__ 20240321220702.0
000139788 0247_ $$2ISSN$$a0367-004x
000139788 0247_ $$2doi$$a10.1007/s00415-017-8711-9
000139788 0247_ $$2pmid$$apmid:29260356
000139788 0247_ $$2ISSN$$a0012-1037
000139788 0247_ $$2ISSN$$a0340-5354
000139788 0247_ $$2ISSN$$a0939-1517
000139788 0247_ $$2ISSN$$a1432-1459
000139788 0247_ $$2ISSN$$a1619-800X
000139788 0247_ $$2altmetric$$aaltmetric:30754412
000139788 0247_ $$2ISSN$$a0367-004X
000139788 037__ $$aDZNE-2020-06110
000139788 041__ $$aEnglish
000139788 082__ $$a610
000139788 1001_ $$0P:(DE-HGF)0$$aCatarino, Claudia B$$b0
000139788 245__ $$aBrain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
000139788 260__ $$aBerlin$$bSpringer73057$$c2018
000139788 264_1 $$2Crossref$$3online$$bSpringer Science and Business Media LLC$$c2017-12-19
000139788 264_1 $$2Crossref$$3print$$bSpringer Science and Business Media LLC$$c2018-02-01
000139788 3367_ $$2DRIVER$$aarticle
000139788 3367_ $$2DataCite$$aOutput Types/Journal article
000139788 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1709728459_11500
000139788 3367_ $$2BibTeX$$aARTICLE
000139788 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000139788 3367_ $$00$$2EndNote$$aJournal Article
000139788 520__ $$aCerebrotendinous 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.
000139788 536__ $$0G:(DE-HGF)POF3-344$$a344 - Clinical and Health Care Research (POF3-344)$$cPOF3-344$$fPOF III$$x0
000139788 542__ $$2Crossref$$i2017-12-19$$uhttp://www.springer.com/tdm
000139788 588__ $$aDataset connected to CrossRef, PubMed,
000139788 650_7 $$2NLM Chemicals$$aGastrointestinal Agents
000139788 650_7 $$00GEI24LG0J$$2NLM Chemicals$$aChenodeoxycholic Acid
000139788 650_7 $$0EC 1.14.15.15$$2NLM Chemicals$$aCYP27A1 protein, human
000139788 650_7 $$0EC 1.14.15.15$$2NLM Chemicals$$aCholestanetriol 26-Monooxygenase
000139788 650_2 $$2MeSH$$aAdult
000139788 650_2 $$2MeSH$$aAnisotropy
000139788 650_2 $$2MeSH$$aBrain: diagnostic imaging
000139788 650_2 $$2MeSH$$aBrain: drug effects
000139788 650_2 $$2MeSH$$aChenodeoxycholic Acid: pharmacology
000139788 650_2 $$2MeSH$$aChenodeoxycholic Acid: therapeutic use
000139788 650_2 $$2MeSH$$aCholestanetriol 26-Monooxygenase: genetics
000139788 650_2 $$2MeSH$$aDiffusion Tensor Imaging
000139788 650_2 $$2MeSH$$aFemale
000139788 650_2 $$2MeSH$$aGastrointestinal Agents: pharmacology
000139788 650_2 $$2MeSH$$aGastrointestinal Agents: therapeutic use
000139788 650_2 $$2MeSH$$aHumans
000139788 650_2 $$2MeSH$$aImage Processing, Computer-Assisted
000139788 650_2 $$2MeSH$$aMagnetic Resonance Imaging
000139788 650_2 $$2MeSH$$aMale
000139788 650_2 $$2MeSH$$aMutation: genetics
000139788 650_2 $$2MeSH$$aProspective Studies
000139788 650_2 $$2MeSH$$aXanthomatosis, Cerebrotendinous: diagnostic imaging
000139788 650_2 $$2MeSH$$aXanthomatosis, Cerebrotendinous: drug therapy
000139788 650_2 $$2MeSH$$aXanthomatosis, Cerebrotendinous: genetics
000139788 7001_ $$0P:(DE-HGF)0$$aVollmar, Christian$$b1
000139788 7001_ $$0P:(DE-2719)9000175$$aKüpper, Clemens$$b2
000139788 7001_ $$0P:(DE-HGF)0$$aSeelos, Klaus$$b3
000139788 7001_ $$0P:(DE-HGF)0$$aGallenmüller, Constanze$$b4
000139788 7001_ $$0P:(DE-HGF)0$$aBartkiewicz, Joanna$$b5
000139788 7001_ $$0P:(DE-HGF)0$$aBiskup, Saskia$$b6
000139788 7001_ $$0P:(DE-HGF)0$$aHörtnagel, Konstanze$$b7
000139788 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b8$$eLast author
000139788 77318 $$2Crossref$$3journal-article$$a10.1007/s00415-017-8711-9$$bSpringer Science and Business Media LLC$$d2017-12-19$$n2$$p388-393$$tJournal of Neurology$$v265$$x0340-5354$$y2017
000139788 773__ $$0PERI:(DE-600)1421299-7$$a10.1007/s00415-017-8711-9$$gVol. 265, no. 2, p. 388 - 393$$n2$$p388-393$$q265:2<388 - 393$$tJournal of neurology$$v265$$x0340-5354$$y2018
000139788 8564_ $$uhttps://pub.dzne.de/record/139788/files/DZNE-2020-06110_Restricted.pdf
000139788 8564_ $$uhttps://pub.dzne.de/record/139788/files/DZNE-2020-06110_Restricted.pdf?subformat=pdfa$$xpdfa
000139788 909CO $$ooai:pub.dzne.de:139788$$pVDB
000139788 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000175$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b2$$kDZNE
000139788 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810704$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b8$$kDZNE
000139788 9131_ $$0G:(DE-HGF)POF3-344$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lErkrankungen des Nervensystems$$vClinical and Health Care Research$$x0
000139788 9141_ $$y2018
000139788 915__ $$0StatID:(DE-HGF)0420$$2StatID$$aNationallizenz$$d2022-11-12$$wger
000139788 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bJ NEUROL : 2021$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-12
000139788 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bJ NEUROL : 2021$$d2022-11-12
000139788 9201_ $$0I:(DE-2719)5000049$$kExt LMU Klinik$$lExt LMU Klinik$$x0
000139788 9201_ $$0I:(DE-2719)1111016$$kAG Levin$$lClinical Neurodegeneration$$x1
000139788 980__ $$ajournal
000139788 980__ $$aVDB
000139788 980__ $$aI:(DE-2719)5000049
000139788 980__ $$aI:(DE-2719)1111016
000139788 980__ $$aUNRESTRICTED
000139788 999C5 $$2Crossref$$uMcKusick VA(1966–2017) Cerebrotendinous xanthomatosis. Online Mendelian Inheritance of Man (OMIM). http://www.omim.org/entry/213700?search=ctx&highlight=ctx . Accessed 01 Sept 2017
000139788 999C5 $$1A Mignarri$$2Crossref$$9-- missing cx lookup --$$a10.1007/s10545-015-9873-1$$p75 -$$tJ Inherit Metab Dis$$uMignarri A, Magni A, Del Puppo M, Gallus GN, Björkhem I, Federico A et al (2016) Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. J Inherit Metab Dis 39:75–83$$v39$$y2016
000139788 999C5 $$1G Salen$$2Crossref$$9-- missing cx lookup --$$a10.1016/0006-2944(75)90020-4$$p57 -$$tBiochem Med$$uSalen G, Meriwether TW, Nicolau G (1975) Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. Biochem Med 14:57–74$$v14$$y1975
000139788 999C5 $$1G Yahalom$$2Crossref$$9-- missing cx lookup --$$a10.1097/WNF.0b013e318288076a$$p78 -$$tClin Neuropharmacol$$uYahalom G, Tsabari R, Molshatzki N, Ephraty L, Cohen H, Hassin-Baer S (2013) Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis. Clin Neuropharmacol 36:78–83$$v36$$y2013
000139788 999C5 $$1M Jenkinson$$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neuroimage.2011.09.015$$p782 -$$tNeuroImage$$uJenkinson M, Beckmann CF, Behrens TE, Woolrich MW, Smith SM (2012) FSL. NeuroImage 62:782–790$$v62$$y2012
000139788 999C5 $$2Crossref$$uAnalysis Group, FMRIB, Oxford, UK (2017). FMRIB Software Library v5.0. http://fsl.fmrib.ox.ac.uk/ . Accessed 01 Sept 2017
000139788 999C5 $$2Crossref$$uWang R, Wedeen Van J, Athinoula A (2015) Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital. Trackvis 0.6 software. http://trackvis.org/blog/tag/diffusion-toolkit/ . Accessed 01 Sept 2017
000139788 999C5 $$2Crossref$$uFIL Methods group SPM (1991, 1994–2017). http://www.fil.ion.ucl.ac.uk/spm/doc/ . Accessed 01 Sept 2017
000139788 999C5 $$2Crossref$$uHenson R (2006) Comparing a single patient versus a group of controls (and SPM). http://www.mrc-cbu.cam.ac.uk//personal/rik.henson/personal/Henson_Singlecase_06.pdf . Accessed 01 Sept 2017
000139788 999C5 $$1VM Berginer$$2Crossref$$9-- missing cx lookup --$$a10.1056/NEJM198412273112601$$p1649 -$$tN Engl J Med$$uBerginer VM, Salen G, Shefer S (1984) Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med 311:1649–1652$$v311$$y1984
000139788 999C5 $$1N Stefano De$$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/124.1.121$$p121 -$$tBrain$$uDe Stefano N, Dotti MT, Mortilla M, Federico A (2001) Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 124:121–131$$v124$$y2001
000139788 999C5 $$1A Mignarri$$2Crossref$$9-- missing cx lookup --$$a10.1007/s00415-017-8440-0$$p862 -$$tJ Neurol$$uMignarri A, Dotti MT, Federico A, De Stefano N, Battaglini M, Grazzini I, Galluzzi P, Monti L (2017) The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. J Neurol 264(5):862–874$$v264$$y2017
000139788 999C5 $$1P Caroppo$$2Crossref$$9-- missing cx lookup --$$a10.1007/s10072-012-1262-z$$p1693 -$$tNeurol Sci$$uCaroppo P, D’Agata F, Mignarri A, Stromillo ML, Dotti MT, Mongini T (2013) Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. Neurol Sci 34:1693–1696$$v34$$y2013
000139788 999C5 $$1S Seidel$$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp.2009.196444$$p703 -$$tJ Neurol Neurosurg Psychiatry$$uSeidel S, Kasprian G, Prayer D, Krssák M, Sycha T, Auff E (2011) Visualisation of treatment response in a case of cerebrotendinous xanthomatosis. J Neurol Neurosurg Psychiatry 82:703–704$$v82$$y2011
000139788 999C5 $$1CC Chang$$2Crossref$$9-- missing cx lookup --$$a10.1186/1471-2377-10-59$$p59 -$$tBMC Neurol$$uChang CC, Lui CC, Wang JJ, Huang SH, Lu CH, Chen C, Chen CF, Tu MC, Huang CW, Chang WN (2010) Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations. BMC Neurol 6(10):59$$v6$$y2010
000139788 999C5 $$1F Barkhof$$2Crossref$$9-- missing cx lookup --$$a10.1148/radiology.217.3.r00dc03869$$p869 -$$tRadiology$$uBarkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ et al (2000) Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology 217:869–873$$v217$$y2000