The main forms of leukodystrophies. Lecture and clinical cases
Leukodystrophies are genetically determined diseases characterised by primary damage to the white matter of the central nervous system, irrespective of the genetic defect and structural component involved. This paper classification is presented based on the identification of typical patterns charact...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2023-12-01
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| Series: | Русский журнал детской неврологии |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/446 |
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| author | A. A. Ershova A. S. Kotov |
| author_facet | A. A. Ershova A. S. Kotov |
| author_sort | A. A. Ershova |
| collection | DOAJ |
| description | Leukodystrophies are genetically determined diseases characterised by primary damage to the white matter of the central nervous system, irrespective of the genetic defect and structural component involved. This paper classification is presented based on the identification of typical patterns characteristic of certain forms of leukodystrophy. Clinical examples are given for each of the identified patterns. The parieto-occipital pattern is considered in a clinical case of a 9-year-old boy with X-linked adrenoleukodystrophy. Frontal pattern there is an example of a genetically verified juvenile form of Alexander’s disease in a 16-year-old female patient. The periventricular pattern reflects leukoencephalopathy with brain stem and spinal cord involvement and increased lactate in a 9-year-old female patient. A subcortical pattern is considered within L-2-hydroxyglutoric aciduria in a 29-year-old patient. As examples of brainstem and cerebellar involvement patterns, autosomal dominant leukodystrophy with adult onset due to tandem duplication of the lamin B gene, identified in a 40-year-old patient, is considered. In conclusion, we present additional diagnostic methods for the differential diagnosis of brain white matter diseases and a brief overview of treatment. |
| format | Article |
| id | doaj-art-beea818c30c4424fa52dbffa6c073190 |
| institution | Kabale University |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2023-12-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-beea818c30c4424fa52dbffa6c0731902025-08-20T04:00:01ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782023-12-01182-3455110.17650/2073-8803-2023-18-2-3-45-51301The main forms of leukodystrophies. Lecture and clinical casesA. A. Ershova0A. S. Kotov1M.F. Vladimirskiy Moscow Regional Research Clinical InstituteM.F. Vladimirskiy Moscow Regional Research Clinical InstituteLeukodystrophies are genetically determined diseases characterised by primary damage to the white matter of the central nervous system, irrespective of the genetic defect and structural component involved. This paper classification is presented based on the identification of typical patterns characteristic of certain forms of leukodystrophy. Clinical examples are given for each of the identified patterns. The parieto-occipital pattern is considered in a clinical case of a 9-year-old boy with X-linked adrenoleukodystrophy. Frontal pattern there is an example of a genetically verified juvenile form of Alexander’s disease in a 16-year-old female patient. The periventricular pattern reflects leukoencephalopathy with brain stem and spinal cord involvement and increased lactate in a 9-year-old female patient. A subcortical pattern is considered within L-2-hydroxyglutoric aciduria in a 29-year-old patient. As examples of brainstem and cerebellar involvement patterns, autosomal dominant leukodystrophy with adult onset due to tandem duplication of the lamin B gene, identified in a 40-year-old patient, is considered. In conclusion, we present additional diagnostic methods for the differential diagnosis of brain white matter diseases and a brief overview of treatment.https://rjdn.abvpress.ru/jour/article/view/446leukodystrophiesalexander diseasel-2-hydroxyglutoric aciduria |
| spellingShingle | A. A. Ershova A. S. Kotov The main forms of leukodystrophies. Lecture and clinical cases Русский журнал детской неврологии leukodystrophies alexander disease l-2-hydroxyglutoric aciduria |
| title | The main forms of leukodystrophies. Lecture and clinical cases |
| title_full | The main forms of leukodystrophies. Lecture and clinical cases |
| title_fullStr | The main forms of leukodystrophies. Lecture and clinical cases |
| title_full_unstemmed | The main forms of leukodystrophies. Lecture and clinical cases |
| title_short | The main forms of leukodystrophies. Lecture and clinical cases |
| title_sort | main forms of leukodystrophies lecture and clinical cases |
| topic | leukodystrophies alexander disease l-2-hydroxyglutoric aciduria |
| url | https://rjdn.abvpress.ru/jour/article/view/446 |
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