The diagnostic challenge of small fibre neuropathy

clinical presentations, evaluations, and causes

Astrid J. Terkelsen, Páll Karlsson, Giuseppe Lauria, Roy Freeman, Nanna B. Finnerup, Troels S. Jensen

Research output: Contribution to journalReview article

41 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)934-944
Number of pages11
JournalThe Lancet Neurology
Volume16
Issue number11
DOIs
Publication statusPublished - Nov 1 2017

Fingerprint

Myelinated Nerve Fibers
Nerve Degeneration
Unmyelinated Nerve Fibers
Polyneuropathies
Nerve Fibers
Evoked Potentials
Routine Diagnostic Tests
Confocal Microscopy
Disease Progression
Biomarkers
Small Fiber Neuropathy
Biopsy
Skin
Mutation

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

The diagnostic challenge of small fibre neuropathy : clinical presentations, evaluations, and causes. / Terkelsen, Astrid J.; Karlsson, Páll; Lauria, Giuseppe; Freeman, Roy; Finnerup, Nanna B.; Jensen, Troels S.

In: The Lancet Neurology, Vol. 16, No. 11, 01.11.2017, p. 934-944.

Research output: Contribution to journalReview article

Terkelsen, Astrid J. ; Karlsson, Páll ; Lauria, Giuseppe ; Freeman, Roy ; Finnerup, Nanna B. ; Jensen, Troels S. / The diagnostic challenge of small fibre neuropathy : clinical presentations, evaluations, and causes. In: The Lancet Neurology. 2017 ; Vol. 16, No. 11. pp. 934-944.
@article{96238bf5d4694d3fa488050100ae5849,
title = "The diagnostic challenge of small fibre neuropathy: clinical presentations, evaluations, and causes",
abstract = "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.",
author = "Terkelsen, {Astrid J.} and P{\'a}ll Karlsson and Giuseppe Lauria and Roy Freeman and Finnerup, {Nanna B.} and Jensen, {Troels S.}",
year = "2017",
month = "11",
day = "1",
doi = "10.1016/S1474-4422(17)30329-0",
language = "English",
volume = "16",
pages = "934--944",
journal = "The Lancet Neurology",
issn = "1474-4422",
publisher = "Lancet Publishing Group",
number = "11",

}

TY - JOUR

T1 - The diagnostic challenge of small fibre neuropathy

T2 - clinical presentations, evaluations, and causes

AU - Terkelsen, Astrid J.

AU - Karlsson, Páll

AU - Lauria, Giuseppe

AU - Freeman, Roy

AU - Finnerup, Nanna B.

AU - Jensen, Troels S.

PY - 2017/11/1

Y1 - 2017/11/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85031748985&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85031748985&partnerID=8YFLogxK

U2 - 10.1016/S1474-4422(17)30329-0

DO - 10.1016/S1474-4422(17)30329-0

M3 - Review article

VL - 16

SP - 934

EP - 944

JO - The Lancet Neurology

JF - The Lancet Neurology

SN - 1474-4422

IS - 11

ER -