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

Journal of Neurology

Volumn 259, Issue 2, 2012, Pages 364-366

  Androdias, Géraldine ^a,b,c,d   Vukusic, Sandra ^a,b,c,d   Gignoux, Laurence ^a,b,c,d   Boespflug Tanguy, Odile ^e   Acquaviva, Cécile ^f   Zabot, Marie Thérèse ^b   Couvert, Philippe ^g   Carrie, Alain ^g   Confavreux, Christian ^a,b,c,d   Labauge, Pierre ^h  

^a HÔPITAL NEUROLOGIQUE   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c INSERM   (France)

^d UNIVERSITÉ LYON 1   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f Groupement Hospitalier Est   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h DEPARTMENT OF NEUROLOGY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ATORVASTATIN; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; STEROL 27 HYDROXYLASE;

ADULT; AKINESIA; ANAMNESIS; BRAIN ATHEROSCLEROSIS; BRAIN CYST; CASE REPORT; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL EXAMINATION; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DEMENTIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; LETTER; LEUKODYSTROPHY; MINI MENTAL STATE EXAMINATION; MUSCLE RIGIDITY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSEUDOBULBAR PALSY;

CEREBELLUM; CYSTS; FEMALE; HUMANS; INTRACRANIAL ARTERIOSCLEROSIS; MIDDLE AGED; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84856725588     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6167-x     Document Type: Letter

References (6)

1. GN Gallus MT Dotti A Federico 2006 Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene Neurol Sci 27 143 149 16816916 10.1007/s10072-006-0618-7 1:STN:280:DC%2BD28zps1Gnug%3D%3D
2. F Barkhof A Verrips P Wesseling MS van Der Knaap BG van Engelen FJ Gabreëls A Keyser RA Wevers J Valk 2000 Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings Radiology 217 869 876 11110956 1:STN:280:DC%2BD3M%2FotVOlsg%3D%3D
3. N Di Stefano MT Dotti M Mortilla A Federico 2001 Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis Brain 124 121 131 10.1093/brain/124.1.121
4. A Verrips LH Hoefsloot GC Steenbergen JP Theelen RA Wevers FJ Gabreëls BG van Engelen LP van den Heuvel 2000 Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis Brain 123 908 919 10775536 10.1093/brain/123.5.908
5. Posada IJ, Ramos A (2011) Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis. Parkinsonism Relat Disord, Apr 28 [Epub ahead of print]
6. K Inoue S Kubota Y Seyama 1999 Cholestanol induce apoptosis of cerebellar neuronal cells Biochem Biophys Res Commun 256 198 203 10066446 10.1006/bbrc.1998.9497 1:CAS:528:DyaK1MXhsVCks7s%3D