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)
| Autor: | Ye. P. Kolesnikova, L. M. Kuzenkova, K. V. Savostyanov, O. V. Globa, T. V. Podkletnova |
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| Jazyk: | English<br />Russian |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Вопросы современной педиатрии, Vol 14, Iss 6, Pp 724-731 (2016) |
| Druh dokumentu: | article |
| ISSN: | 1682-5527 1682-5535 |
| DOI: | 10.15690/vsp.v14i6.1483 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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