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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
Comprehensive evaluation of clinical findings, brain magnetic resonance imaging, and genetic studies play the key roles in the early diagnosis of individuals with leukodystrophies. No cure is available for most heritable white matter disorders but symptomatic treatments ca …
Comprehensive evaluation of clinical findings, brain magnetic resonance imaging, and genetic studies play the key roles in the early …
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Steenweg ME, Ghezzi D, Haack T, Abbink TE, Martinelli D, van Berkel CG, Bley A, Diogo L, Grillo E, Te Water Naudé J, Strom TM, Bertini E, Prokisch H, van der Knaap MS, Zeviani M. Steenweg ME, et al. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4. Brain. 2012. PMID: 22492562 Free article.
In an isolated patient, we found two mutant alleles for EARS2, the gene encoding mitochondrial glutamyl-tRNA synthetase. The brain magnetic resonance imaging of this patient was hallmarked by extensive symmetrical cerebral white matter abnormalities sparing the periventric …
In an isolated patient, we found two mutant alleles for EARS2, the gene encoding mitochondrial glutamyl-tRNA synthetase. The brain ma …
Alexander Disease.
Tavasoli A, Armangue T, Ho CY, Whitehead M, Bornhorst M, Rhee J, Hwang EI, Wells EM, Packer R, van der Knaap MS, Bugiani M, Vanderver A. Tavasoli A, et al. J Child Neurol. 2017 Feb;32(2):184-187. doi: 10.1177/0883073816673263. Epub 2016 Oct 10. J Child Neurol. 2017. PMID: 28112050
Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and structural changes to the basal ganglia/thalamus. ...
Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem …
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.
Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D, Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C. Biancheri R, et al. JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9. JIMD Rep. 2015. PMID: 25854774 Free PMC article.
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a novel mitochondrial disease caused by mutations in EARS2, which encodes the mitochondrial glutamyl-tRNA synthetase (mtGluRS). ...Brain MRI, at 8 months, sho …
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a novel mitochondrial dis …
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.
Şahin S, Cansu A, Kalay E, Dinçer T, Kul S, Çakır İM, Kamaşak T, Budak GY. Şahin S, et al. J Neurol Sci. 2016 Jun 15;365:54-8. doi: 10.1016/j.jns.2016.04.008. Epub 2016 Apr 9. J Neurol Sci. 2016. PMID: 27206875
Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to mutations in the EARS2 gene encoding glutamyl-tRNA synthetase. ...While the older brother had hypotonia and delayed develop …
Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified di …
Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate.
Sawada D, Naito S, Aoyama H, Shiohama T, Ichikawa T, Imagawa E, Miyake N, Matsumoto N, Fujii K. Sawada D, et al. Brain Dev. 2021 Aug;43(7):798-803. doi: 10.1016/j.braindev.2021.03.008. Epub 2021 May 4. Brain Dev. 2021. PMID: 33962821
BACKGROUND: Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a hereditary disorder caused by biallelic variants in the EARS2 gene. Patients exhibit developmental delay, hypotonia, and hyperreflexia. Brain ma …
BACKGROUND: Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a hereditary …
B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 gene.
Wen Y, Huang Y, Zhang W, Chen P, Hu X, Xiong X, Luo L. Wen Y, et al. Ital J Pediatr. 2025 May 19;51(1):143. doi: 10.1186/s13052-025-01999-5. Ital J Pediatr. 2025. PMID: 40389993 Free PMC article.
PURPOSE: The EARS2 gene, a member of the mt-aaRS family, encodes mitochondrial glutamyl-tRNA synthetase (GluRS), which is involved in the synthesis of mitochondrial proteins. Pathogenic defects in EARS2 may cause mitochondrial OXPHOS deficiency, which is associated with a …
PURPOSE: The EARS2 gene, a member of the mt-aaRS family, encodes mitochondrial glutamyl-tRNA synthetase (GluRS), which is involved in …
Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
Sellars EA, Balmakund T, Bosanko K, Nichols BL, Kahler SG, Zarate YA. Sellars EA, et al. Neuropediatrics. 2017 Apr;48(2):108-110. doi: 10.1055/s-0036-1593984. Epub 2016 Nov 22. Neuropediatrics. 2017. PMID: 27875839
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive mitochondrial disease characterized by early onset of neurological symptoms, a biphasic clinical course, and distinctive neu …
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described auto …
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Livingston JH, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli DM, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, Stone J, van der Knaap MS, van Esch H, van Mol C, Wakeling E, Whitney A, Rice GI, Crow YJ. Livingston JH, et al. Neuropediatrics. 2014 Jun;45(3):175-82. doi: 10.1055/s-0033-1364180. Epub 2014 Jan 9. Neuropediatrics. 2014. PMID: 24407470
Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in a pericystic distribution. Diffuse leukoencephalopathy was present in all patients, and it was usually symmetrical involving p …
Dense calcification occurred in the basal ganglia, thalami, dentate nucleus, brain stem, deep gyri, deep white matter, and in …
A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).
Güngör O, Özkaya AK, Şahin Y, Güngör G, Dilber C, Aydın K. Güngör O, et al. Brain Dev. 2016 Oct;38(9):857-61. doi: 10.1016/j.braindev.2016.04.002. Epub 2016 Apr 23. Brain Dev. 2016. PMID: 27117034
Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting …
Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we p …
56 results