Páll Karlsson

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

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

I: Lancet Neurology, Bind 16, Nr. 11, 11.2017, s. 934-944.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisReviewForskningpeer review

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@article{d8b7283dae644140a9937423bddd5fec,
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.",
keywords = "Journal Article, Review",
author = "Terkelsen, {Astrid J.} and P{\'a}ll Karlsson and Giuseppe Lauria and Roy Freeman and Finnerup, {Nanna Brix} and Jensen, {Troels Staehelin}",
note = "Copyright {\textcopyright} 2017 Elsevier Ltd. All rights reserved.",
year = "2017",
month = nov,
doi = "10.1016/S1474-4422(17)30329-0",
language = "English",
volume = "16",
pages = "934--944",
journal = "Lancet Neurology",
issn = "1474-4422",
publisher = "TheLancet Publishing Group",
number = "11",

}

RIS

TY - JOUR

T1 - The diagnostic challenge of small fibre neuropathy, clinical presentations, evaluations, and causes

AU - Terkelsen, Astrid J.

AU - Karlsson, Páll

AU - Lauria, Giuseppe

AU - Freeman, Roy

AU - Finnerup, Nanna Brix

AU - Jensen, Troels Staehelin

N1 - Copyright © 2017 Elsevier Ltd. All rights reserved.

PY - 2017/11

Y1 - 2017/11

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.

KW - Journal Article

KW - Review

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

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

M3 - Review

C2 - 29029847

VL - 16

SP - 934

EP - 944

JO - Lancet Neurology

JF - Lancet Neurology

SN - 1474-4422

IS - 11

ER -