Early MR imaging and spectroscopy appearance of eIF2B-related leukoencephalopathy

Neurology

Volumn 67, Issue 3, 2006, Pages 537-538

  Mascalchi, M ^a   De Grandis, D ^b   Ginestroni, A ^a   Pratesi, A ^a   Nave, R Della ^a   Scheper, G C ^c   Van Der Knaap, M S ^c  

^a UNIVERSITY OF FLORENCE   (Italy)

^b Civil Hospital   (Italy)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR;

ARTICLE; BRAIN DISEASE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DISEASE COURSE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; LEUKOENCEPHALOPATHY; MALE; MOLECULAR GENETICS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROGNOSIS; PROTON NUCLEAR MAGNETIC RESONANCE; SCHOOL CHILD; VANISHING WHITE MATTER;

BRAIN DISEASES; CEREBRAL CORTEX; CHILD; DEMENTIA, VASCULAR; EUKARYOTIC INITIATION FACTOR-2B; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION;

EID: 33747054185     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000227920.57400.69     Document Type: Article

References (7)

1. Leegwater PA, Vermeulen G, Konst AA, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. Nat Genet 2001;29:383-388.
2. Van der Knaap MS, Leegwater PAJ, Könst AAM, et al. Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. Ann Neurol 2002;51:264-270.
3. van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J. Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 1998;51:540-547.
4. van der Knaap MS, Barth PG, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997;48:845-855.
5. Bianchi MC, Tosetti M, Battini R, et al. Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance. AJNR Am J Neuroradiol 2003;24:1958-1966.
6. van der Knaap MS, Leegwater PAJ, van Berkel CG, et al. Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology 2004;62:1598-1600.
7. Gallo A, Rocca MA, Falini A, et al. Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter. Neurology 2004;62:323-326.