Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5

Neurogenetics

Volumn 12, Issue 3, 2011, Pages 259-261

  Matsukawa, Takashi ^a   Wang, Xuemin ^b   Liu, Rui ^b   Wortham, Noel C ^b   Onuki, Yuko ^c   Kubota, Akatsuki ^a   Hida, Ayumi ^a   Kowa, Hisatomo ^d   Fukuda, Yoko ^a   Ishiura, Hiroyuki ^a   Mitsui, Jun ^a   Takahashi, Yuji ^a   Aoki, Shigeki ^e   Takizawa, Shunya ^c   Shimizu, Jun ^a   Goto, Jun ^a   Proud, Christopher G ^b   Tsuji, Shoji ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c TOKAI UNIVERSITY   (Japan)

^d KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e JUNTENDO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

INITIATION FACTOR; INITIATION FACTOR 2B2; INITIATION FACTOR 2B3; INITIATION FACTOR 2B5; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CEREBELLAR ATAXIA; FEMALE; HEAD INJURY; HUMAN; INJECTION; JAPANESE; LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPASTICITY;

ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; BASE SEQUENCE; EUKARYOTIC INITIATION FACTOR-2B; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE DEGENERATION; PROTEIN ISOFORMS;

EID: 80052708158     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0284-7     Document Type: Article

References (2)

1. P Labauge L Horzinski X Ayrignac P Blanc S Vukusic D Rodriguez F Mauguiere L Peter C Goizet F Bouhour C Denier C Confavreux M Obadia F Blanc J de Sèze A Fogli O Boespflug-Tanguy 2009 Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases Brain 132 2161 2169 19625339 10.1093/brain/awp171
2. W Li X Wang MS van der Knaap CG Proud 2004 Mutations linked to leukoencephalopathy with vanishing white matter impair the function of the eukaryotic initiation factor 2B complex in diverse ways Mol Cell Biol 24 3295 3306 15060152 10.1128/MCB.24.8.3295-3306.2004 1:CAS:528:DC%2BD2cXjtFKjtrY%3D (Pubitemid 38452074)