Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings

Journal of the Neurological Sciences

Volumn 365, Issue , 2016, Pages 54-58

  Şahin, Sevim ^a   Cansu, Ali ^a   Kalay, Ersan ^a   Dinçer, Tuba ^a   Kul, Sibel ^b   Çakir, Ismet Miraç ^b   Kamaşak, Tülay ^a   Budak, Gülden Yorgancioǧlu ^a  

^a KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^b KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

Author keywords

Child; Leukodystrophy; LTBL; Mitochondrial disease; Nuclear gene

Indexed keywords

GLUTAMATE TRANSFER RNA LIGASE; BIOLOGICAL MARKER; GLUTAMYL-TRNA SYNTHETASE 2, MITOCHONDRIAL, HUMAN; LACTIC ACID;

ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EARS2 GENE; GENE; GENE MUTATION; HUMAN; INFANT; LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE; MALE; MUSCLE HYPOTONIA; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SIBLING; SPASTICITY; SYMPTOMATOLOGY; BLOOD; BRAIN STEM; DIAGNOSTIC IMAGING; GENETICS; MUTATION; THALAMUS;

BIOMARKERS; BRAIN STEM; CHILD; GLUTAMATE-TRNA LIGASE; HUMANS; INFANT; LACTIC ACID; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; SIBLINGS; THALAMUS;

EID: 84962909305     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2016.04.008     Document Type: Article

References (15)

1. M.E. Steenweg, D. Ghezzi, T. Haack, T.E.M. Abbink, D. Martinelli, C.G.M. van Berkel, and et al. Leukoencephalopathy with thalamus and brainstem involvement and high lactate "LTBL" caused by EARS2 mutations Brain 135 2012 1387 1394
2. D. Ghezzi, and M. Zeviani Mitochondrial disorders: nuclear gene mutations Encyclopedia of Life Sciences (ELS) 2011 John Wiley & Sons, Ltd Chichester 10.1002/9780470015902.a0005540.pub2
3. B. Talim, A. Pyle, H. Griffin, H. Topaloglu, A. Tokatli, M.J. Keogh, and et al. Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation Brain 136 2013 e228
4. K. Danhauser, T.B. Haack, B. Alhaddad, M. Melcher, A. Seibt, T.M. Strom, and et al. EARS2 Mutations Cause Fatal Neonatal Lactic Acidosis, Recurrent Hypoglycemia and Agenesis of Corpus Callosum 2016 Metab. Brain Dis 10.1007/s11011-016-9793-2
5. S.H. Kevelam, Ã.F.C.C. Klouwer, M. Bugiani, M.S. Van Der Knaap, J.M. Fock, and G.S. Salomons Absent thalami caused by a homozygous EARS2 mutation: expanding disease spectrum of LTBL Neuropediatrics 47 2016 64 67
6. B.D. Taskin, Z.S. Karalok, E. Gurkas, K. Aydin, U. Aydogmus, S. Ceylaner, and et al. Early-onset mild type leukoencephalopathy caused by a homozygous EARS2 mutation J. Child Neurol. 1-4 2016 10.1177/0883073816630087
7. R.W. Taylor, A. Pyle, H. Griffin, E.L. Blakely, J. Duff, L. He, and et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies J. Am. Med. Assoc. 312 2014 68 10.1001/jama.2014.7184
8. R. Biancheri, E. Lamantea, M. Severino, D. Diodato, M. Pedemonte, D. Cassandrini, and 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. 23 2015 85 89
9. L. Melchionda, T.B. Haack, S. Hardy, T.E.M. Abbink, E. Fernandez-Vizarra, E. Lamantea, and et al. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency Am. J. Hum. Genet. 95 2014 315 325
10. C. Dallabona, D. Diodato, S.H. Kevelam, C. Mariotti, T.M. Strom, T. Meitinger, and et al. Novel (ovario) leukodystrophy related to AARS2 mutations Neurology 82 2014 2063 2071
11. G.C. Scheper, T. van der Klok, R.J. van Andel, C.G. van Berkel, M. Sissler, J. Smet, and et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Nat. Genet. 39 2007 534 549
12. P. Isohanni, T. Linnankivi, J. Buzkova, T. Lönnqvist, H. Pihko, L. Valanne, and et al. DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis J. Med. Genet. 47 2010 66 70
13. C. Köhler, C. Heyer, S. Hoffjan, S. Stemmler, T. Lücke, C. Thiels, and et al. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene Mol. Cell. Probes 29 2015 319 322
14. M.E. Steenweg, A. Vanderver, B. Ceulemans, P. Prabhakar, L. Régal, A. Fattal-Valevski, and et al. Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement Arch. Neurol. 69 2012 718 722
15. T. Arnedo, C. Aiello, E. Jeworutzki, M.L. Dentici, G. Uziel, A. Simonati, and et al. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations Neurogenetics 15 2014 41 48