Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis-Reference-Cited by-同舟云学术

Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis

Published:2011-07-19 Issue:2 Volume:259 Page:364-366
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Androdias Géraldine,Vukusic Sandra,Gignoux Laurence,Boespflug-Tanguy Odile,Acquaviva Cécile,Zabot Marie-Thérèse,Couvert Philippe,Carrie Alain,Confavreux Christian,Labauge Pierre

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-011-6167-x.pdf

Reference6 articles.

1. Gallus GN, Dotti MT, Federico A (2006) Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 27:143–149

2. 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 217:869–876

3. Di 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

4. Verrips A, Hoefsloot LH, Steenbergen GC, Theelen JP, Wevers RA, Gabreëls FJ, van Engelen BG, van den Heuvel LP (2000) Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 123:908–919

5. Posada IJ, Ramos A (2011) Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis. Parkinsonism Relat Disord, Apr 28 [Epub ahead of print]

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis – a Video Case Series from India;Tremor and Other Hyperkinetic Movements;2024

2. Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation;Cureus;2023-01-05

3. First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century;Clinical Genetics;2021-11-24

4. Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review;World Journal of Clinical Cases;2020-11-06

5. Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives;Frontiers in Neurology;2019-01-16