Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency)
Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of posterior columns of the spinal cord and highly spec...
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"Paediatrician" Publishers LLC
2016-01-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/1564 |
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| author | Ye. P. Kolesnikova L. M. Kuzenkova K. V. Savostyanov O. V. Globa T. V. Podkletnova |
| author_facet | Ye. P. Kolesnikova L. M. Kuzenkova K. V. Savostyanov O. V. Globa T. V. Podkletnova |
| author_sort | Ye. P. Kolesnikova |
| collection | DOAJ |
| description | Leukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of posterior columns of the spinal cord and highly specific changes according to the data of MRI and magnetic resonanse spectroscopy of the brain and spinal cord. This disease is one of nuclear inherited mitochondrial encephalomyopathies, caused by mutations in the DARS2 gene and characterized by mitochondrial aspartyl-tRNA-synthetase deficiency. This article presents the record of the disease description, its genetic basis, clinical features and diagnostic criteria. The article describes two clinical cases of the disease in 9-year and 17-year old girls. |
| format | Article |
| id | doaj-art-1732dacf7d79472fb4a4b0bc75e241dd |
| institution | DOAJ |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-1732dacf7d79472fb4a4b0bc75e241dd2025-08-20T03:21:12Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352016-01-0114672473110.15690/vsp.v14i6.14831555Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency)Ye. P. Kolesnikova0L. M. Kuzenkova1K. V. Savostyanov2O. V. Globa3T. V. Podkletnova4Scientific Centre of Children Health, Moscow, Russian FederationScientific Centre of Children Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian FederationScientific Centre of Children Health, Moscow, Russian FederationScientific Centre of Children Health, Moscow, Russian FederationScientific Centre of Children Health, Moscow, Russian FederationLeukoencephalopathy with predominant lesion of the brain stem, spinal cord and high blood lactate in the MR spectroscopy is a hereditary disease characterized by slowly progressing cerebellar, pyramidal disorders, disorders involving the lesion of posterior columns of the spinal cord and highly specific changes according to the data of MRI and magnetic resonanse spectroscopy of the brain and spinal cord. This disease is one of nuclear inherited mitochondrial encephalomyopathies, caused by mutations in the DARS2 gene and characterized by mitochondrial aspartyl-tRNA-synthetase deficiency. This article presents the record of the disease description, its genetic basis, clinical features and diagnostic criteria. The article describes two clinical cases of the disease in 9-year and 17-year old girls.https://vsp.spr-journal.ru/jour/article/view/1564childrenleukoencephalopathy with predominant lesion of the brain stemspinal cord and high blood lactate in the mr spectroscopyclinical aspectdiagnosis |
| spellingShingle | Ye. P. Kolesnikova L. M. Kuzenkova K. V. Savostyanov O. V. Globa T. V. Podkletnova Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency) Вопросы современной педиатрии children leukoencephalopathy with predominant lesion of the brain stem spinal cord and high blood lactate in the mr spectroscopy clinical aspect diagnosis |
| title | Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency) |
| title_full | Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency) |
| title_fullStr | Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency) |
| title_full_unstemmed | Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency) |
| title_short | Clinical Cases of Leukoencephalopathy with Predominant Lesion of the Brain Stem, Spinal Cord and High Blood Lactate in the MR Spectroscopy (Mitochondrial Aspartyl-tRNASynthetase Deficiency) |
| title_sort | clinical cases of leukoencephalopathy with predominant lesion of the brain stem spinal cord and high blood lactate in the mr spectroscopy mitochondrial aspartyl trnasynthetase deficiency |
| topic | children leukoencephalopathy with predominant lesion of the brain stem spinal cord and high blood lactate in the mr spectroscopy clinical aspect diagnosis |
| url | https://vsp.spr-journal.ru/jour/article/view/1564 |
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