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Neuroradiology
Published in: Neuroradiology 6/2012

01-06-2012 | Letter to the Editor

Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation

Six-year MRI follow-up

Authors: Andrea Mignarri, Maria Teresa Dotti, Marina Del Puppo, Gian Nicola Gallus, Antonio Giorgio, Alfonso Cerase, Lucia Monti

Published in: Neuroradiology | Issue 6/2012

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Excerpt

Dear Sir, …
Literature
1.
Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ, Keyser A, Wevers RA, Valk J (2000) Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology 217:869–876PubMed
2.
De Stefano N, Dotti MT, Mortilla M, Federico A (2001) Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 124:121–131PubMedCrossRef
3.
Panzenboeck U, Andersson U, Hansson M, Sattler W, Meaney S, Björkhem I (2007) On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis. J Lipid Res 48:1167–1174PubMedCrossRef
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Björkhem I, Cedazo-Minguez A, Leoni V, Meaney S (2009) Oxysterols and neurodegenerative diseases. Mol Aspects Med 30:171–179PubMedCrossRef
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Androdias G, Vukusic S, Gignoux L, Boespflug-Tanguy O, Acquaviva C, Zabot MT, Couvert P, Carrie A, Confavreux C, Labauge P (2012) Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. J Neurol 259:364–366PubMedCrossRef
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Inoue K, Kubota S, Seyama Y (1999) Cholestanol induces apoptosis of cerebellar neuronal cells. Biochem Biophys Res Commun 256:198–203PubMedCrossRef
Metadata
Title
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation
Six-year MRI follow-up
Authors
Andrea Mignarri
Maria Teresa Dotti
Marina Del Puppo
Gian Nicola Gallus
Antonio Giorgio
Alfonso Cerase
Lucia Monti
Publication date
01-06-2012
Publisher
Springer-Verlag
Published in
Neuroradiology / Issue 6/2012
Print ISSN: 0028-3940
Electronic ISSN: 1432-1920
DOI
https://doi.org/10.1007/s00234-012-1026-8

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