title: Neurofibromatosis type 1 association with moyamoya disease.
abstract: 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.
authors.affiliation: Department of Neurology, Cukurova University Medical School, Adana, Turkey. kocfiliz@gmail.com
authors.forename: Filiz
authors.initials: F
authors.lastname: Koc
authors.forename: Deniz
authors.initials: D
authors.lastname: Yerdelen
authors.forename: Zafer
authors.initials: Z
authors.lastname: Koc
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000473:pathology; D002533:Cerebral Angiography; D002560:Cerebrovascular Circulation; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009072:Moyamoya Disease / Q000150:complications* / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D013788:Thalamus / Q000473:pathology