Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement"

被引：6

作者：

Prasun, Pankaj ^{[1
]}

Mintz, Cassie ^{[1
]}

Cork, Emalyn ^{[1
]}

Naidich, Thomas P. ^{[2
]}

Webb, Bryn D. ^{[1
]}

机构：

[1] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, One Gustave L Levy Pl,Box 1497, New York, NY 10029 USA

[2] Icahn Sch Med Mt Sinai, Dept Radiol, New York, NY 10029 USA

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2019年 / 406卷

基金：

美国国家卫生研究院;

关键词：

Mitochondria; Leukoencephalopathy; Leukodystrophy; Brain stem; Thalamus; EARS2; HIGH LACTATE LTBL;

D O I：

10.1016/j.jns.2019.116448

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：3

共 9 条

[1] Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Steenweg, Marjan E.
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Abbink, Truus E. M.
Martinelli, Diego
van Berkel, Carola G. M.
Bley, Annette
Diogo, Luisa
Grillo, Eugenio
Naude, Johann Te Water
Strom, Tim M.
Bertini, Enrico
Prokisch, Holger
van der Knaap, Marjo S.
Zeviani, Massimo
BRAIN, 2012, 135 : 1387 - 1394
[2] A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)
Gungor, Olcay
Ozkaya, Ahmet Kagan
Sahin, Yavuz
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BRAIN & DEVELOPMENT, 2016, 38 (09): : 857 - 861
[3] Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings
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JOURNAL OF THE NEUROLOGICAL SCIENCES, 2016, 365 : 54 - 58
[4] Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL
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Unceta Suarez, Maria
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GENES, 2020, 11 (09) : 1 - 10
[5] Typical clinical presentation and broad spectrum of MRI findings in general paresis due to neurosyphilis in a HIV-negative patient
Scalco, R. S.
Soder, R. B.
Rosa, L. O.
Marrone, L. C. P.
Martinez, J. V. L.
Becker, J.
JOURNAL OF NEUROLOGY, 2012, 259 : S218 - S219
[6] Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Wongkittichote, Parith
Magistrati, Martina
Shimony, Joshua S.
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Fatemi, Seyed Ali
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MOLECULAR GENETICS AND METABOLISM, 2022, 136 (04) : 260 - 267
[7] Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation
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Steenari, Maija R.
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MOLECULAR GENETICS AND METABOLISM REPORTS, 2024, 38
[8] LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL): NOVEL DARS2 MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS
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MOLECULAR GENETICS AND METABOLISM, 2022, 135 (04) : 279 - 279
[9] Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3
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