Neurological manifestations of neurofibromatosis: a review
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REVIEW ARTICLE
Neurological manifestations of neurofibromatosis: a review Michael Bayat 1 & Allan Bayat 2 Received: 26 September 2019 / Accepted: 6 April 2020 # Fondazione Società Italiana di Neurologia 2020
Abstract Neurofibromatosis type 1(NF1) is a dominantly inherited genetic disorder caused by a mutation in the NF1 tumor-suppressor gene. Patients are prone to develop benign and malignant tumors not only in the central and peripheral nervous system but also in other parts of the body. Apart from tumors, neurofibromatosis may also be associated with neurological symptoms and disorders such as cerebrovascular disease, epilepsy, neuropathy, and headache. This article seeks to review the different neurological manifestations of neurofibromatosis. Keywords Neurofibromatosis . Neuropathy . Cerebrovascular disorders . Epilepsy . Neoplasms . Headache
Introduction Neurofibromatosis type 1(NF1) is a dominantly inherited genetic disorder with a birth incidence of one 1 in 2500 to 1 in 3000. It is caused by a mutation in the NF1 tumor-suppressor gene, located on chromosome 17q11.2. The encoded protein, neurofibromin, functions as a negative regulator of the Ras proto-oncogene (a molecule involved in the control of cell growth). Affected individuals are born with one mutated and one functional copy of the gene. Additional somatic NF1 mutations are required for tumor development. About 50% of patients have no family history and are thought to have de novo mutations. Clinical diagnosis rests on two or more of the following: six or more cafe-au-lait macules (> 0.5 cm at the largest diameter in a prepubertal child or > 1.5 cm in postpubertal individuals), axillary freckling or freckling in inguinal regions, two or more neurofibromas of any type or one or more plexiform neurofibromas, two or more Lisch nodules (iris hamartomas), sphenoid wing dysplasia/long-bone dysplasia, an optic pathway glioma and a first-degree relative with the disease [1, 2]. Making the diagnosis is important because patients are prone to develop benign and malignant tumors not only in * Michael Bayat [email protected] 1
Department of Neurology & Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark
2
Danish Epilepsy Centre, Dianalund, Denmark
the central and peripheral nervous system but also in other parts of the body. Apart from tumors, neurofibromatosis may also be associated with neurological symptoms and disorders such as cerebrovascular disease, epilepsy, neuropathy, and headache. This article seeks to review the different neurological manifestations of neurofibromatosis.
Search strategy and selection criteria We searched studies indexed in Pubmed using MeSH terms such as “neurofibromatosis” and “neurological” or “neuropathy”, “cerebrovascular disorders”, “stroke”, “epilepsy”, ”neoplasms”, “headache ” and “migraine disorders”. We also identified additional studies by reviewing the bibliographies of relevant studies. Review articles, original articles, and cases/ case series were included.
Neuropsychological symptoms Cognit
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