Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Figures Only
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Correction (v60,p1223)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Fogli, A.
Right arrow Articles by Bertini, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Fogli, A.
Right arrow Articles by Bertini, E.
Related Collections
Right arrow All Pediatric
Right arrow All Demyelinating disease (CNS)
Right arrow All Genetics

Neurology 2002;59:1966-1968
© 2002 American Academy of Neurology
Brief Communications

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

A. Fogli, PhD, C. Dionisi-Vici, MD, F. Deodato, MD, A. Bartuli, MD, O. Boespflug-Tanguy, MD PhD and E. Bertini, MD

From INSERM UMR 384 et Fédération de Génétique Humaine Auvergne (Drs. Fogli and Boespflug-Tanguy), Faculté de Médecine, Clermont-Ferrand, France; and the Unit of Molecular Medicine (Dr. Bertini) and Division of Metabolic Disorders (Drs. Dionisi-Vici, Deodato, and Bartuli), Bambino Gesu’ Children’s Hospital, Rome, Italy.

Address correspondence and reprint requests to Dr. Odile Boespflug-Tanguy, INSERM UMR 384, Faculté de Médecine 28, place Henri Dunant BP 38, 63001 Clermont-Ferrand cedex, France; e-mail: Odile.Boespflug{at}inserm.u-clermont1.fr

Childhood ataxia with central hypomyelination (CACH)/vanishing white matter (VWM) leukoencephalopathy is related to mutations in all five genes of the eukaryotic translation initiation factor (eIF2B). In a fatal infantile leukoencephalopathy, which the authors previously classified as a severe variant of CACH/VWM, a new homozygous missense mutation in the EIF2B5 gene was found. Abnormal decrease in blood uric acid and increase of erythrocyte guanosine 5'-diphosphate sugars found in two siblings may contribute to the explanation of this particularly severe condition.




This article has been cited by other articles:


Home page
 BrainHome page
P. Labauge, L. Horzinski, X. Ayrignac, P. Blanc, S. Vukusic, D. Rodriguez, F. Mauguiere, L. Peter, C. Goizet, F. Bouhour, et al.
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases
Brain, August 1, 2009; 132(8): 2161 - 2169.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
S. S. N. Wong, D. C. K. Luk, V. C. N. Wong, G. C. Scheper, and M. S. van der Knaap
Vanishing White Matter Disease: The First Reported Chinese Patient
J Child Neurol, June 1, 2008; 23(6): 710 - 714.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
J. Maletkovic, R. Schiffmann, J. R. Gorospe, E. S. Gordon, M. Mintz, E. P. Hoffman, G. Alper, D. R. Lynch, B. S. Singhal, C. Harding, et al.
Genetic and Clinical Heterogeneity in eIF2B-Related Disorder
J Child Neurol, February 1, 2008; 23(2): 205 - 215.
[Abstract] [PDF]

Home page
 J Child NeurolHome page
L. Blumkin, N. Watemberg, D. Lev, G. Malinger, Y. Luckman, B. Ben-Zeev, and T. Lerman-Sagie
Nonprogressive Familial Leukoencephalopathy With Porencephalic Cyst and Focal Seizures
J Child Neurol, February 1, 2006; 21(2): 145 - 148.
[Abstract] [PDF]

Home page
 J. Biol. Chem.Home page
C. B. Marta, M. B. Montano, C. M. Taylor, A. L. Taylor, R. Bansal, and S. E. Pfeiffer
Signaling Cascades Activated upon Antibody Cross-linking of Myelin Oligodendrocyte Glycoprotein: POTENTIAL IMPLICATIONS FOR MULTIPLE SCLEROSIS
J. Biol. Chem., March 11, 2005; 280(10): 8985 - 8993.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
H. Ohtake, T. Shimohata, K. Terajima, T. Kimura, R. Jo, R. Kaseda, O. Iizuka, M. Takano, Y. Akaiwa, H. Goto, et al.
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5
Neurology, May 11, 2004; 62(9): 1601 - 1603.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Cell. Biol.Home page
J. P. Richardson, S. S. Mohammad, and G. D. Pavitt
Mutations Causing Childhood Ataxia with Central Nervous System Hypomyelination Reduce Eukaryotic Initiation Factor 2B Complex Formation and Activity
Mol. Cell. Biol., March 15, 2004; 24(6): 2352 - 2363.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 2002 by AAN Enterprises, Inc.