Small fibre neuropathy

Daniele Cazzato, Giuseppe Lauria

Research output: Contribution to journalReview article

Abstract

Purpose of review To provide a review on the state-of-art of clinical features, diagnostics, genetics and treatments of small fibre neuropathy (SFN). Recent findings The spectrum of clinical features has been widened from the classical presentation of burning feet as length-dependent SFN to that of small fibre dysfunction and/or degeneration associated with focal, diffuse and episodic neuropathic pain syndromes. The involvement of small nerve fibres in neurodegenerative diseases has been further defined, challenging the relationship between neuropathic pain symptoms and small fibre loss. The clinical reliability of skin biopsy has been strengthened by the availability of normative values for both the immunohistochemistry techniques used and their comparison, and by side and short-term follow-up analyses. Corneal confocal microscopy has implemented its diagnostic potentiality because of the availability of age-adjusted and sex-adjusted normative values. Genetic studies expanded the panel on genes involved in SFN because of the discovery of new mutations in SCN10A and SCN11A, besides the first found in SCN9A, and identification of mutations in COL6A5 in patients with itching. Summary In the last 5 years, the chapter of SFN has been widened by new clinical and genetics descriptions leading to a more comprehensive approach to patients in clinical practice and research.

Original languageEnglish
Pages (from-to)490-499
Number of pages10
JournalCurrent Opinion in Neurology
Volume30
Issue number5
DOIs
Publication statusPublished - Oct 1 2017

Keywords

  • confocal corneal microscopy
  • intraepidermal nerve fibres
  • painful neuropathy
  • quantitative sensory testing
  • quantitative sudomotor axon reflex test
  • skin biopsy
  • small fibre neuropathy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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