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Case Reports in Neurological Medicine
Volume 2013, Article ID 735419, 3 pages
http://dx.doi.org/10.1155/2013/735419
Case Report

Coexistence of Neurofibromatosis Type-1 and MTHFR C677T Gene Mutation in a Young Stroke Patient: A Case Report

1The Department of Physical Medicine and Rehabilitation, Konya Education and Research Hospital, 42040 Konya, Turkey
2The Department of Neurology, Konya Education and Research Hospital, 42040 Konya, Turkey

Received 15 January 2013; Accepted 4 February 2013

Academic Editors: Y. Iwasaki, R. Koide, and K. Wessel

Copyright © 2013 Halim Yilmaz et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. U. Utku, “Stroke: definition, etiology, classification and risk factors,” Turkish Journal of Physical Medicine and Rehabilitation, vol. 53, no. 1, pp. 1–3, 2007. View at Google Scholar · View at Scopus
  2. V. Krishnaswami and D. Vahidassr, “Young stroke due to vascular anomaly from neurofibromatosis type 1,” British Medical Journal Case Reports, 2012. View at Publisher · View at Google Scholar
  3. E. J. Piovesan, R. H. Scola, L. C. Werneck et al., “Neurofibromatosis, stroke and basilar impression: case report,” Arquivos de Neuro-Psiquiatria, vol. 57, no. 2 B, pp. 484–488, 1999. View at Google Scholar · View at Scopus
  4. S. C. Tang, M. J. Lee, J. S. Jeng, and P. K. Yip, “Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke,” Journal of the Neurological Sciences, vol. 243, no. 1-2, pp. 53–55, 2006. View at Publisher · View at Google Scholar · View at Scopus
  5. L. L. Stern, P. J. Bagley, I. H. Rosenberg, and J. Selhub, “Conversion of 5-formyltetrahydrofolic acid to 5-methyltetrahydrofolic acid is unimpaired in folate-adequate persons homozygous for the C677T mutation in the methylenetetrahydrofolate reductase gene,” Journal of Nutrition, vol. 130, no. 9, pp. 2238–2242, 2000. View at Google Scholar · View at Scopus
  6. J. I. Harper, “Familial multiple tumour syndrome,” in Textbook of Dermatology, R. H. Champion, J. L. Burton, D. A. Burns, and S. M. Breathnach, Eds., pp. 378–384, Blackwell Science, Oxford, UK, 6th edition, 1998. View at Google Scholar
  7. S. Van Es, K. N. North, K. McHugh, and M. De Silva, “MRI findings in children with neurofibromatosis type 1: a prospective study,” Pediatric Radiology, vol. 26, no. 7, pp. 478–487, 1996. View at Publisher · View at Google Scholar · View at Scopus
  8. D. H. Gutmann, “Recent insights into neurofibromatosis type 1: clear genetic progress,” Archives of Neurology, vol. 55, no. 6, pp. 778–780, 1998. View at Publisher · View at Google Scholar · View at Scopus
  9. P. J. Martin, T. P. Enevoldson, and P. R. Humphrey, “Causes of ischaemic stroke in the young,” Postgraduate Medical Journal, vol. 73, no. 855, pp. 8–16, 1997. View at Google Scholar
  10. A. G. Cairns and K. N. North, “Cerebrovascular dysplasia in neurofibromatosis type 1,” Journal of Neurology, Neurosurgery and Psychiatry, vol. 79, no. 10, pp. 1165–1170, 2008. View at Publisher · View at Google Scholar · View at Scopus
  11. D. Ilhan, S. Daǧli, B. Adapinar, and D. Özbabalik, “Cerebral intratumoral haemorrhage haemorrhage associated with neurofibromatosis type 1 case report,” Journal of Neurological Sciences, vol. 26, no. 2, pp. 237–241, 2009 (Turkish). View at Google Scholar · View at Scopus
  12. D. Rea, J. F. Brandsema, D. Armstrong et al., “Cerebral arteriopathy in children with neurofibromatosis type 1,” Pediatrics, vol. 124, no. 3, pp. e476–e483, 2009. View at Publisher · View at Google Scholar · View at Scopus
  13. M. Dikmen, “Metilentetrahidrofolat Redüktaz (MTHFR) Enziminin Moleküler Biyolojisi ve Hastalıklarla İlişkisi. Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) Enzyme and Its Association with Diseases. Kocatepe Tıp Dergisi,” The Medical Journal of Kocatepe, vol. 5, pp. 9–16, 2004. View at Google Scholar
  14. P. Goyette, A. Pai, R. Milos et al., “Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR),” Mammalian Genome, vol. 9, no. 8, pp. 652–656, 1998. View at Publisher · View at Google Scholar
  15. P. L. Rady, S. K. Tyring, S. D. Hudnall et al., “Methylenetetrahydrofolate reductase (MTHFR): the incidence of mutations C677T and A1298C in the Ashkenazi Jewish population,” American Journal of Medical Genetics, vol. 86, no. 4, pp. 380–384, 1999. View at Publisher · View at Google Scholar
  16. H. Morita, H. Kurihara, S. I. Tsubaki et al., “Methylenetetrahydrofolate reductase gene polymorphism and ischemic stroke in Japanese,” Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 18, no. 9, pp. 1465–1469, 1998. View at Google Scholar · View at Scopus