Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America
Introduction. Monogenic mutations as the cause of recurrent ischemic cerebral small-vessel disease with leukodystrophy are rare. COL4A1 gene mutations are a relatively new etiology of cerebrovascular lesions in young adults; however, any patient has been reported from Latin America. Case Presentatio...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2023/6614837 |
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| author | Emilio Israel Wong-Valenzuela Daniel San Juan José Santos Zambrano Alejandra Camacho Molina Miguel Angel Morales-Morales Alejandro Lopez-Landa |
| author_facet | Emilio Israel Wong-Valenzuela Daniel San Juan José Santos Zambrano Alejandra Camacho Molina Miguel Angel Morales-Morales Alejandro Lopez-Landa |
| author_sort | Emilio Israel Wong-Valenzuela |
| collection | DOAJ |
| description | Introduction. Monogenic mutations as the cause of recurrent ischemic cerebral small-vessel disease with leukodystrophy are rare. COL4A1 gene mutations are a relatively new etiology of cerebrovascular lesions in young adults; however, any patient has been reported from Latin America. Case Presentation. We presented a Mexican young female with leukodystrophy and recurrent stroke secondary to COL4A1 monogenic mutation. Discussion/Conclusion. COL4A1 monogenic mutations are associated with cerebral small-vessel disease and other systemic manifestations. To date, there is little evidence to justify the treatment and prevention of recurrent strokes in patients with this mutation. |
| format | Article |
| id | doaj-art-666a44e556a34ff59e77ebb4bd4036f7 |
| institution | DOAJ |
| issn | 2090-6552 |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-666a44e556a34ff59e77ebb4bd4036f72025-08-20T03:19:35ZengWileyCase Reports in Genetics2090-65522023-01-01202310.1155/2023/6614837Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin AmericaEmilio Israel Wong-Valenzuela0Daniel San Juan1José Santos Zambrano2Alejandra Camacho Molina3Miguel Angel Morales-Morales4Alejandro Lopez-Landa5Epilepsy ClinicEpilepsy ClinicNeurology DepartmentRare Diseases National ProgramFaculty of MedicineFaculty of MedicineIntroduction. Monogenic mutations as the cause of recurrent ischemic cerebral small-vessel disease with leukodystrophy are rare. COL4A1 gene mutations are a relatively new etiology of cerebrovascular lesions in young adults; however, any patient has been reported from Latin America. Case Presentation. We presented a Mexican young female with leukodystrophy and recurrent stroke secondary to COL4A1 monogenic mutation. Discussion/Conclusion. COL4A1 monogenic mutations are associated with cerebral small-vessel disease and other systemic manifestations. To date, there is little evidence to justify the treatment and prevention of recurrent strokes in patients with this mutation.http://dx.doi.org/10.1155/2023/6614837 |
| spellingShingle | Emilio Israel Wong-Valenzuela Daniel San Juan José Santos Zambrano Alejandra Camacho Molina Miguel Angel Morales-Morales Alejandro Lopez-Landa Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America Case Reports in Genetics |
| title | Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America |
| title_full | Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America |
| title_fullStr | Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America |
| title_full_unstemmed | Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America |
| title_short | Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America |
| title_sort | recurrent ischemic strokes due to monogenic col4a1 mutation the first case report from latin america |
| url | http://dx.doi.org/10.1155/2023/6614837 |
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