Neurofibromatosis type 1 association with moyamoya disease

Koc F., Yerdelen D., Koc Z.

INTERNATIONAL JOURNAL OF NEUROSCIENCE, cilt.118, sa.8, ss.1157-1163, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 118 Sayı: 8
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1080/00207450801898279
  • Dergi Adı: INTERNATIONAL JOURNAL OF NEUROSCIENCE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1157-1163
  • Anahtar Kelimeler: moyamoya disease, neurofibromatosis type 1, MUTATION-RATE
  • Çukurova Üniversitesi Adresli: Evet

Özet

The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. The neurofibromatoses are classified as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of the neurofibromatoses. The gene responsible for NF1 is located on the chromosome region 17q11.2 and for familial moyamoya disease on chromosome 17q25. This article reports on a 20-year-old female with neurofibromatosis-1 who developed moyamoya syndrome. More extensive reports and further investigations of such families having this combination will certainly provide a better understanding of this link in the near future.