Bayat Michael, Bayat Allan
Department of Neurology & Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
Danish Epilepsy Centre, Dianalund, Denmark.
Neurol Sci. 2020 Oct;41(10):2685-2690. doi: 10.1007/s10072-020-04400-x. Epub 2020 May 1.
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.
1型神经纤维瘤病(NF1)是一种由NF1肿瘤抑制基因突变引起的常染色体显性遗传性疾病。患者不仅容易在中枢和周围神经系统,还容易在身体的其他部位发生良性和恶性肿瘤。除肿瘤外,神经纤维瘤病还可能与神经症状和疾病相关,如脑血管疾病、癫痫、神经病变和头痛。本文旨在综述神经纤维瘤病的不同神经学表现。