Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report
In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk fac...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2013/735419 |
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| _version_ | 1849408765924737024 |
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| author | Halim Yilmaz Gulten Erkin Haluk Gumus Lutfiye Nalbant |
| author_facet | Halim Yilmaz Gulten Erkin Haluk Gumus Lutfiye Nalbant |
| author_sort | Halim Yilmaz |
| collection | DOAJ |
| description | In neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In the paper, a 31-year-old young stroke female patient with the coexistence of neurofibromatosis and MTHFR C677T gene mutation was presented. |
| format | Article |
| id | doaj-art-7abd3f61be7f472ba667ed710baf76f2 |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-7abd3f61be7f472ba667ed710baf76f22025-08-20T03:35:41ZengWileyCase Reports in Neurological Medicine2090-66682090-66762013-01-01201310.1155/2013/735419735419Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case ReportHalim Yilmaz0Gulten Erkin1Haluk Gumus2Lutfiye Nalbant3The Department of Physical Medicine and Rehabilitation, Konya Education and Research Hospital, 42040 Konya, TurkeyThe Department of Physical Medicine and Rehabilitation, Konya Education and Research Hospital, 42040 Konya, TurkeyThe Department of Neurology, Konya Education and Research Hospital, 42040 Konya, TurkeyThe Department of Physical Medicine and Rehabilitation, Konya Education and Research Hospital, 42040 Konya, TurkeyIn neurofibromatosis type-1 (NF1), cerebrovascular disorders are rarely encountered although vasculopathy is a well-known complication. Several mutations seen in methylenetetrahydrofolate reductase (MTHFR) give rise to the formation of hyperhomocysteinemia and homocystinuria, a considerable risk factor for cardiovascular and cerebrovascular disorders, by leading to enzymatic inactivation. In the paper, a 31-year-old young stroke female patient with the coexistence of neurofibromatosis and MTHFR C677T gene mutation was presented.http://dx.doi.org/10.1155/2013/735419 |
| spellingShingle | Halim Yilmaz Gulten Erkin Haluk Gumus Lutfiye Nalbant Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report Case Reports in Neurological Medicine |
| title | Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report |
| title_full | Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report |
| title_fullStr | Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report |
| title_full_unstemmed | Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report |
| title_short | Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report |
| title_sort | coexistence of neurofibromatosis type 1 and mthfr c677t gene mutation in a young stroke patient a case report |
| url | http://dx.doi.org/10.1155/2013/735419 |
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