Neurofibromatosis Type 1(NF1)

By Johnson Mbabazi

Neurofibromatosis type 1 is a multifaceted autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Approximately all people with neurofibromatosis type 1 develop pigmentary lesions and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life. With the identification of NF1 and the generation of accurate preclinical mouse strains that model some of these clinical features, therapies that target the underlying molecular and cellular pathophysiology for neurofibromatosis type 1 are becoming available. Even though no single treatment exists, current clinical management strategies include early detection of disease phenotypes (risk assessment) and biologically targeted therapies. Likewise, new medical and behavioural interventions are emerging to improve the quality of life of patients. Although considerable progress has been made in understanding this condition, various challenges remain; a collaborative and interdisciplinary method is required to manage individuals with neurofibromatosis type1 and to develop effective treatments.

• Format: Paperback
• Language: English
• ISBN: 1661565794
• ISBN13: 9781661565794
• Release Date: January 2020
• Publisher: Independently Published
• Length: 32 Pages
• Weight: 0.16 lbs.
• Dimensions: 0.1" x 6.0" x 9.0"