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Schulz, Alexander; Grafe, Peter; Hagel, Christian; Baeumer, Philipp; Morrison, Helen; Mautner, Victor-Felix; Farschtschi, Said (2018): Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities. In: Experimental Neurology, Vol. 299: pp. 334-344
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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.