Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL

Neuropediatrics

Volumn 47, Issue 1, 2015, Pages 64-67

  Kevelam, Sietske H ^a,b   Klouwer, Femke C C ^a,d   Fock, Johanna M ^c   Salomons, Gajja S ^b   Bugiani, Marianna ^a   Van Der Knaap, Marjo S ^a,b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

EARS2; leukoencephalopathy; mitochondrial aminoacyl tRNA synthetase; thalamus

Indexed keywords

EARS2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; GLUTAMATE TRANSFER RNA LIGASE; LACTIC ACID;

ADULT; ARTICLE; BRAIN DEVELOPMENT; CASE REPORT; CORPUS CALLOSUM; DNA DETERMINATION; EXOME; FOLLOW UP; GENE MUTATION; HOMOZYGOTE; HUMAN; LATERAL BRAIN VENTRICLE; LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; WHITE MATTER; YOUNG ADULT; ADOLESCENT; BRAIN STEM; GENETICS; METABOLISM; MUTATION; PATHOLOGY; THALAMUS;

ADOLESCENT; BRAIN STEM; GLUTAMATE-TRNA LIGASE; HUMANS; LACTIC ACID; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; THALAMUS;

EID: 84955681332     PISSN: 0174304X     EISSN: 14391899     Source Type: Journal    
DOI: 10.1055/s-0035-1568987     Document Type: Article

References (9)

1. Steenweg M. E., Vanderver A., Ceulemans B., et al. Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement. Arch Neurol: 2012; 69 6 718 722
2. Steenweg M. E., Ghezzi D., Haack T., et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain: 2012; 135 (Pt 5): 1387 1394
3. Martinez-Ferre A., Martinez S. Molecular regionalization of the diencephalon. Front Neurosci: 2012; 6 73 73
4. Yakovlev P. I., Wadsworth R. C. Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol: 1946; 5 3 169 206
5. Yakovlev P. I., Wadsworth R. C. Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips. J Neuropathol Exp Neurol: 1946; 5 116 130
6. Hayashi N., Tsutsumi Y., Barkovich A. J. Morphological features and associated anomalies of schizencephaly in the clinical population: detailed analysis of MR images. Neuroradiology: 2002; 44 5 418 427
7. Biancheri R., Lamantea E., Severino M., et al. Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation. JIMD Rep: 2015; 23 85 89
8. Talim B., Pyle A., Griffin H., et al. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. Brain: 2013; 136 (Pt 2): e228
9. Taylor R. W., Pyle A., Griffin H., et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA: 2014; 312 1 68 77