Neurofibromatosis 1 (NF1) is a common neurocutaneous condition with an autosomal dominant pattern of inheritance. The complications are diverse and disease expression varies, even within families. Progress in molecular biology and neuroimaging and the development of mouse models have helped to elucidate the aetiology of NF1 and its clinical manifestations. Furthermore, these advances have raised the prospect of therapeutic intervention for this complex and distressing disease. Members of the United Kingdom Neurofibromatosis Association Clinical Advisory Board collaborated to produce a consensus statement on the current guidelines for diagnosis and management of NF1. The proposals are based on published clinical studies and on the pooled knowledge of experts in neurofibromatosis with experience of providing multidisciplinary clinical and molecular services for NF1 patients. The consensus statement discusses the diagnostic criteria, major differential diagnoses, clinical manifestations and the present strategies for monitoring and management of NF1 complications.
- MPNST, malignant peripheral nerve sheath tumours
- NF1, NF2, neurofibromatosis 1, 2
- OPG, optic pathway gliomas
Statistics from Altmetric.com
Published Online First 14 November 2006
Competing interests: None.
Contact addresses: The Neurofibromatosis Association, 38 High St, Kingston on Thames KT1 1HL, UK; Tel 020 8439 1234, Fax 020 8439 1200; registered charity number 1078790. The Neurofibromatosis specialist advisors are based around the UK and can be contacted via the Neurofibromatosis Association.
For information on Genetic Units see: http://www.gig.org.uk/services.html
Neurofibromatosis specialist centres: Dr Rosalie Ferner, Department of Neurology, Guy’s Hospital, St Thomas St, London SE1 9RT, UK, Tel 020 7188 3970 (Guy’s and St Thomas’ specialist neurofibromatosis nurse: Melissa Vann-Blockley, Tel 0207 188-3971); Professor Gareth Evans and Dr Susan Huson, University Department of Medical Genetics and Regional Genetics Service, St Mary’s Hospital, Hathersage Rd, Manchester M13 0JH, UK, Tel 0161 276 6264.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.