Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report
Alexander disease is a form of leukoencephalopathy caused by mutations in the GFAP gene. There are three forms of the disease: infant, juvenile and adult. We present the clinical case of a patient born in 2004 (16 years old) with a debut of the disease at the age of 4 years with complex ticks. furth...
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| Language: | Russian |
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2021-07-01
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| Series: | Русский журнал детской неврологии |
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| Online Access: | https://rjdn.abvpress.ru/jour/article/view/362 |
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| author | A. I. Pavljuchkova A. S. Kotov |
| author_facet | A. I. Pavljuchkova A. S. Kotov |
| author_sort | A. I. Pavljuchkova |
| collection | DOAJ |
| description | Alexander disease is a form of leukoencephalopathy caused by mutations in the GFAP gene. There are three forms of the disease: infant, juvenile and adult. We present the clinical case of a patient born in 2004 (16 years old) with a debut of the disease at the age of 4 years with complex ticks. further neurological symptoms progressed and appeared atactic gait, intention tremor by performing coordination tests, muscle hypotension, decreased tendon reflexes, nasal voices, and behavior changes.Magnetic resonance imaging revealed changes in the white matter of both frontal lobes. An analysis was made of 59 genes of the panel “Leukodystrophy/leukoencephalopathy” by the method of mass parallel sequencing on the Ion S5. A mutation of the GFAP gene (Nm_002055), 4 exon c.758C>A, p.ALA253Asp in a heterozygous state, not described in Human Gene mutation Database, was detected. The patient was confirmed to have a diagnosis of Alexander disease. According to tractography, a decrease in the number of fibers in the frontal lobes was found.The patient is currently receiving symptomatic treatment. |
| format | Article |
| id | doaj-art-dae71c2e2820408a82f7cc49dee0eeb2 |
| institution | Kabale University |
| issn | 2073-8803 2412-9178 |
| language | Russian |
| publishDate | 2021-07-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Русский журнал детской неврологии |
| spelling | doaj-art-dae71c2e2820408a82f7cc49dee0eeb22025-08-20T03:44:13ZrusABV-pressРусский журнал детской неврологии2073-88032412-91782021-07-01161-2586210.17650/2073-8803-2021-16-1-2-58-62242Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case reportA. I. Pavljuchkova0A. S. Kotov1M.F. Vladimirsky Moscow Regional Research Clinical InstituteM.F. Vladimirsky Moscow Regional Research Clinical InstituteAlexander disease is a form of leukoencephalopathy caused by mutations in the GFAP gene. There are three forms of the disease: infant, juvenile and adult. We present the clinical case of a patient born in 2004 (16 years old) with a debut of the disease at the age of 4 years with complex ticks. further neurological symptoms progressed and appeared atactic gait, intention tremor by performing coordination tests, muscle hypotension, decreased tendon reflexes, nasal voices, and behavior changes.Magnetic resonance imaging revealed changes in the white matter of both frontal lobes. An analysis was made of 59 genes of the panel “Leukodystrophy/leukoencephalopathy” by the method of mass parallel sequencing on the Ion S5. A mutation of the GFAP gene (Nm_002055), 4 exon c.758C>A, p.ALA253Asp in a heterozygous state, not described in Human Gene mutation Database, was detected. The patient was confirmed to have a diagnosis of Alexander disease. According to tractography, a decrease in the number of fibers in the frontal lobes was found.The patient is currently receiving symptomatic treatment.https://rjdn.abvpress.ru/jour/article/view/362alexander diseasepreviously not described mutationmagnetic resonance imagingtractographygfap |
| spellingShingle | A. I. Pavljuchkova A. S. Kotov Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report Русский журнал детской неврологии alexander disease previously not described mutation magnetic resonance imaging tractography gfap |
| title | Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report |
| title_full | Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report |
| title_fullStr | Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report |
| title_full_unstemmed | Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report |
| title_short | Juvenile form of alexander disease caused by a previously undescribed mutation in the GFAP gene. a case report |
| title_sort | juvenile form of alexander disease caused by a previously undescribed mutation in the gfap gene a case report |
| topic | alexander disease previously not described mutation magnetic resonance imaging tractography gfap |
| url | https://rjdn.abvpress.ru/jour/article/view/362 |
| work_keys_str_mv | AT aipavljuchkova juvenileformofalexanderdiseasecausedbyapreviouslyundescribedmutationinthegfapgeneacasereport AT askotov juvenileformofalexanderdiseasecausedbyapreviouslyundescribedmutationinthegfapgeneacasereport |