Neurofibromatosis Type 1 (NF1)

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Neurofibromatosis Type 1 (NF1) is a multisystem autosomal disorder affecting both children and adults in a ratio of approximately 1in 3500 (Boyd, Horf & Theos 2009). Children and adults are prone to the development of both malignant and benign tumours of the peripheral nervous system (PNS) and the central nervous system (CNS) (Gutmann, Parada, Sila & Ratner 2012). NF1 has been present throughout history, is found across all ethnic groups, is inherited in an autosomal dominant fashion and primarily affects tissue derived from the embryonic neural crest (Coleman & Wallace 1994). The purpose of this independent investigation is to develop a better base of knowledge of the condition and understand of how NF1 impacts on the nervous system. Those…show more content…
However, people with NF1 frequently have learning difficulties and may develop musculoskeletal abnormalities, vascular disease, CNS tumours or malignant peripheral nerve sheath tumours, optic gliomas and brain abnormalities (Kimberly & Friedman 2010). In order to effectively diagnose the condition the National Institute of Health established a set of diagnostic criteria in which an individual must have two or more of the following criteria to be diagnosed with NF1: six or more cafe-au-lait macules, two or more neurofibromas of any type or one plexiform neurofibroma, freckling in axillary or inguinal regions, optic glioma, two or more Lisch nodules and a first degree relative with NF1 as defined by the above criteria (Kimberly & Friedman 2010, Parada…show more content…
NF1 is a disorder requiring management by multiple disciplines; often these are coordinated through a primary care physician or a geneticist (Boyd, Horf & Theos 2009). However with new advances and the availability of genetically engineered mouse models for NF1 associated CNS pathology; it now becomes possible to foresee a pipeline in which fundamental basic science discoveries lead to the identification of new cellular and molecular targets for therapeutic drug design, culminating in preclinical evaluation before testing in patients with NF1 (Gutmann, Parada, Sila & Ratner 2012). In conclusion NF1 is a multisystem autosomal disorder affecting both adults and children with numbers of 1 in 3500. NF1 encodes for the protein neurofibromin which is a tumour suppressor that is expressed in multiple cells, primarily in neurons. Clinically, the most frequent manifestations are alterations of the skin pigmentation, iris Lisch nodules, and multiple benign neurofibromas. Whilst there is no known cure for the condition research is looking promising with the use of genetically engineered mouse models of NF1to discover possible therapeutic drug designs for people suffering from this

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