Neuropathies in the setting of Neurofibromatosis tumor syndromes: Complexities and opportunities

Exp Neurol. 2018 Jan;299(Pt B):334-344. doi: 10.1016/j.expneurol.2017.06.006. Epub 2017 Jun 3.

Abstract

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.

Keywords: NF1; NF2; Nerve microlesions; Neurofibroma; Peripheral neuropathy; Schwannoma; Schwannomatosis.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Animals
  • Axons / pathology
  • Child
  • Demyelinating Diseases / etiology
  • Demyelinating Diseases / pathology
  • Demyelinating Diseases / physiopathology
  • Disease Models, Animal
  • Electrophysiology
  • Humans
  • Mice
  • Molecular Targeted Therapy
  • Nerve Crush
  • Nervous System Diseases / etiology*
  • Neuralgia / etiology
  • Neuralgia / physiopathology
  • Neuralgia / therapy
  • Neurilemmoma / complications
  • Neurilemmoma / physiopathology
  • Neurofibromatoses / complications*
  • Neurofibromatoses / physiopathology
  • Neuroimaging
  • Pain Management
  • Psychotherapy
  • Sciatic Nerve / pathology
  • Sensation Disorders / etiology
  • Sensation Disorders / physiopathology
  • Skin Neoplasms / complications
  • Skin Neoplasms / physiopathology

Supplementary concepts

  • Schwannomatosis