This site is intended for healthcare professionals
  • Home
  • /
  • Journals
  • /
  • Other hereditary or degenerative neurological diso...
  • /
  • The diagnostic challenge of small fibre neuropathy...

The diagnostic challenge of small fibre neuropathy: clinical presentations, evaluations, and causes.

Read time: 1 mins
Published:1st Nov 2017
Author: Terkelsen AJ, Karlsson P, Lauria G, Freeman R, Finnerup NB, Jensen TS.
Availability: Pay for access, or by subscription
Ref.:Lancet Neurol. 2017;16(11):934-944.
Small fibre neuropathies are a heterogeneous group of disorders affecting thinly myelinated Aδ-fibres and unmyelinated C-fibres. Although multiple causes of small nerve fibre degeneration have been reported, including via genetic mutations, the cause of small fibre neuropathy remains unknown in up to 50% of cases. The typical clinical presentation of small fibre neuropathy is that of a symmetrical, length-dependent polyneuropathy associated with sensory or autonomic symptoms. More rarely, the clinical presentation is characterised by non-length-dependent, focal, or multifocal symptoms. The diagnostic tests to identify small fibre neuropathy include skin biopsy, quantitative sensory, and autonomic testing. Additional tests, such as those measuring small fibre-related evoked potentials and corneal confocal microscopy, might contribute to a better understanding of these neuropathies. Biochemical markers can also help in screening patients for the presence of small fibre neuropathy and to assess disease progression.

Read abstract on library site

Access full article