期刊
EXPERIMENTAL NEUROLOGY
卷 299, 期 -, 页码 334-344出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.expneurol.2017.06.006
关键词
Peripheral neuropathy; NF1; NF2; Schwannomatosis; Schwannoma; Neurofibroma; Nerve microlesions
资金
- German Research Foundation (DFG) [SCHU 3039/1-1]
- German lay organization Bundesverband Neurofibromatose
- Karberg foundation
- [SFB 604]
- [DFG MO 1421/2-1]
- [RTG1715]
- [Krebshilfe 107089]
The term 'Neurofibromatosis' (NF) comprises a group of rare diseases with related clinical presentations but distinct genetic conditions. All currently known types - NF1, NF2 and Schwannomatosis - predispose afflicted individuals to the development of glial cell-derived (gliogenic) tumors. Furthermore, the occurrence of neuropathic symptoms, which add to the overall neurologic disability of patients, has been described in all disease entities. We show that neuropathic symptoms are a common and clinically important, yet infrequently studied feature in the NF spectrum. However, the clinical relevance and respective underlying pathogenesis, varies greatly among the different NF types. In this review, we summarize and interpret the latest basic research findings, as well as clinical observations, in respect of Neurofibromatosis-associated neuropathies. (C) 2017 Elsevier Inc. All rights reserved.
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