Natural history of adult-onset eIF2B-related disorders: A multi-centric survey of 16 cases

Brain

Volumn 132, Issue 8, 2009, Pages 2161-2169

  Labauge, Pierre ^a,i   Horzinski, Laetitia ^b   Ayrignac, Xavier ^a   Blanc, Pierre ^c   Vukusic, Sandra ^d   Rodriguez, Diana ^e   Mauguiere, Francois ^d   Peter, Laure ^d   Goizet, Cyril ^f   Bouhour, Francoise ^d   Denier, Christian ^e   Confavreux, Christian ^d   Obadia, Michael ^g   Blanc, Frederic ^h   Sze, Jrome De ^h   Fogli, Anne ^b,c   Boespflug Tanguy, Odile ^b,c  

^a CHU de Nmes   (France)

^b INSERM   (France)

^c UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^d Service de Neurologie A   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^h UNIVERSITY HOSPITAL OF STRASBOURG   (France)

ⁱ DEPARTMENT OF NEUROLOGY   (France)

Author keywords

Adult onset leucodystrophies; CACH VWM; EIF2B related disorders

Indexed keywords

ARGININE; DNA; GLUTAMIC ACID; GLYCINE; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HISTIDINE;

ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; CEREBELLAR ATAXIA; CEREBELLUM; CLINICAL ARTICLE; COGNITIVE DEFECT; CORPUS CALLOSUM; DEPRESSION; DISEASE COURSE; DNA SEQUENCE; EUKARYOTIC INITIATION FACTOR 2B GENE; EUKARYOTIC INITIATION FACTOR 2B RELATED DISORDER; FEMALE; GENE; GENE MUTATION; HUMAN; LEUKOENCEPHALOPATHY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OVARY INSUFFICIENCY; PRIORITY JOURNAL; PROGNOSIS; RATING SCALE; SCHIZOPHRENIA; SEX DIFFERENCE; STRESS;

ADOLESCENT; ADULT; AGE OF ONSET; BRAIN; COGNITION DISORDERS; CRANIOCEREBRAL TRAUMA; DISEASE PROGRESSION; EUKARYOTIC INITIATION FACTOR-2B; FEMALE; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; OVARIAN FAILURE, PREMATURE; PROGNOSIS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 67749093175     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awp171     Document Type: Article

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