Identification of corneal and intra-epidermal axonal swellings in amyotrophic lateral sclerosis

Semra Akkaya Turhan; Pall Karlsson; Yuksel Ozun; Hande Gunes; Selcuk Surucu; Ebru Toker; Baris Isak

doi:10.1002/mus.27995

Identification of corneal and intra-epidermal axonal swellings in amyotrophic lateral sclerosis

Semra Akkaya Turhan, Pall Karlsson, Yuksel Ozun, Hande Gunes, Selcuk Surucu, Ebru Toker, Baris Isak

Department of Clinical Medicine - The Danish Pain Research Center

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

1 Citation (Scopus)

Abstract

INTRODUCTION/AIMS: In patients with amyotrophic lateral sclerosis (ALS), axonal spheroids in motor axons have been identified in post-mortem studies. In this study, axonal spheroids and swellings on C-fibers of ALS patients were investigated using corneal confocal microscopy (CCM) and skin biopsy, respectively.

METHODS: Thirty-one ALS patients and 20 healthy subjects were evaluated with CCM to assess corneal nerve-fiber length (CNFL), -fiber density (CNFD), -branch density (CNBD), dendritic cell (DC) density, and axonal spheroids originating from C-fibers (>100 μm 2 ). In addition, intraepidermal nerve fiber density (IENFD) and axonal swellings (>1.5 μm) were assessed in skin biopsies obtained from the arms and legs of 22 patients and 17 controls.

RESULTS: In ALS patients, IENFD, CNFD, CNFL, and CNBD were not different from controls. The density of DCs and the number of patients with increased DC density were higher in ALS patients than controls (p = .0005 and p = .008). The number of patients with axonal spheroids was higher than controls (p = .03).

DISCUSSION: Evaluation of DCs and axonal bulbs in C-fibers of ALS patients could provide insights into pathophysiology or potentially serve as biomarkers in ALS.

Original language	English
Journal	Muscle & Nerve
Volume	69
Issue	1
Pages (from-to)	78-86
Number of pages	9
ISSN	0148-639X
DOIs	https://doi.org/10.1002/mus.27995
Publication status	Published - Jan 2024

Keywords

amyotrophic lateral sclerosis
axonal swelling
corneal confocal microscopy
dendritic cells
skin biopsy
Microscopy, Confocal
Amyotrophic Lateral Sclerosis/pathology
Cornea/innervation
Humans
Axons/pathology
Skin/pathology
Nerve Fibers, Unmyelinated/pathology

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title = "Identification of corneal and intra-epidermal axonal swellings in amyotrophic lateral sclerosis",

abstract = "INTRODUCTION/AIMS: In patients with amyotrophic lateral sclerosis (ALS), axonal spheroids in motor axons have been identified in post-mortem studies. In this study, axonal spheroids and swellings on C-fibers of ALS patients were investigated using corneal confocal microscopy (CCM) and skin biopsy, respectively.METHODS: Thirty-one ALS patients and 20 healthy subjects were evaluated with CCM to assess corneal nerve-fiber length (CNFL), -fiber density (CNFD), -branch density (CNBD), dendritic cell (DC) density, and axonal spheroids originating from C-fibers (>100 μm 2 ). In addition, intraepidermal nerve fiber density (IENFD) and axonal swellings (>1.5 μm) were assessed in skin biopsies obtained from the arms and legs of 22 patients and 17 controls. RESULTS: In ALS patients, IENFD, CNFD, CNFL, and CNBD were not different from controls. The density of DCs and the number of patients with increased DC density were higher in ALS patients than controls (p = .0005 and p = .008). The number of patients with axonal spheroids was higher than controls (p = .03).DISCUSSION: Evaluation of DCs and axonal bulbs in C-fibers of ALS patients could provide insights into pathophysiology or potentially serve as biomarkers in ALS.",

keywords = "amyotrophic lateral sclerosis, axonal swelling, corneal confocal microscopy, dendritic cells, skin biopsy, Microscopy, Confocal, Amyotrophic Lateral Sclerosis/pathology, Cornea/innervation, Humans, Axons/pathology, Skin/pathology, Nerve Fibers, Unmyelinated/pathology",

author = "Turhan, {Semra Akkaya} and Pall Karlsson and Yuksel Ozun and Hande Gunes and Selcuk Surucu and Ebru Toker and Baris Isak",

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doi = "10.1002/mus.27995",

language = "English",

volume = "69",

pages = "78--86",

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T1 - Identification of corneal and intra-epidermal axonal swellings in amyotrophic lateral sclerosis

AU - Turhan, Semra Akkaya

AU - Karlsson, Pall

AU - Ozun, Yuksel

AU - Gunes, Hande

AU - Surucu, Selcuk

AU - Toker, Ebru

AU - Isak, Baris

PY - 2024/1

Y1 - 2024/1

N2 - INTRODUCTION/AIMS: In patients with amyotrophic lateral sclerosis (ALS), axonal spheroids in motor axons have been identified in post-mortem studies. In this study, axonal spheroids and swellings on C-fibers of ALS patients were investigated using corneal confocal microscopy (CCM) and skin biopsy, respectively.METHODS: Thirty-one ALS patients and 20 healthy subjects were evaluated with CCM to assess corneal nerve-fiber length (CNFL), -fiber density (CNFD), -branch density (CNBD), dendritic cell (DC) density, and axonal spheroids originating from C-fibers (>100 μm 2 ). In addition, intraepidermal nerve fiber density (IENFD) and axonal swellings (>1.5 μm) were assessed in skin biopsies obtained from the arms and legs of 22 patients and 17 controls. RESULTS: In ALS patients, IENFD, CNFD, CNFL, and CNBD were not different from controls. The density of DCs and the number of patients with increased DC density were higher in ALS patients than controls (p = .0005 and p = .008). The number of patients with axonal spheroids was higher than controls (p = .03).DISCUSSION: Evaluation of DCs and axonal bulbs in C-fibers of ALS patients could provide insights into pathophysiology or potentially serve as biomarkers in ALS.

AB - INTRODUCTION/AIMS: In patients with amyotrophic lateral sclerosis (ALS), axonal spheroids in motor axons have been identified in post-mortem studies. In this study, axonal spheroids and swellings on C-fibers of ALS patients were investigated using corneal confocal microscopy (CCM) and skin biopsy, respectively.METHODS: Thirty-one ALS patients and 20 healthy subjects were evaluated with CCM to assess corneal nerve-fiber length (CNFL), -fiber density (CNFD), -branch density (CNBD), dendritic cell (DC) density, and axonal spheroids originating from C-fibers (>100 μm 2 ). In addition, intraepidermal nerve fiber density (IENFD) and axonal swellings (>1.5 μm) were assessed in skin biopsies obtained from the arms and legs of 22 patients and 17 controls. RESULTS: In ALS patients, IENFD, CNFD, CNFL, and CNBD were not different from controls. The density of DCs and the number of patients with increased DC density were higher in ALS patients than controls (p = .0005 and p = .008). The number of patients with axonal spheroids was higher than controls (p = .03).DISCUSSION: Evaluation of DCs and axonal bulbs in C-fibers of ALS patients could provide insights into pathophysiology or potentially serve as biomarkers in ALS.

KW - amyotrophic lateral sclerosis

KW - axonal swelling

KW - corneal confocal microscopy

KW - dendritic cells

KW - skin biopsy

KW - Microscopy, Confocal

KW - Amyotrophic Lateral Sclerosis/pathology

KW - Cornea/innervation

KW - Humans

KW - Axons/pathology

KW - Skin/pathology

KW - Nerve Fibers, Unmyelinated/pathology

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DO - 10.1002/mus.27995

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C2 - 37983951

SN - 0148-639X

VL - 69

SP - 78

EP - 86

JO - Muscle & Nerve

JF - Muscle & Nerve

IS - 1

ER -

Identification of corneal and intra-epidermal axonal swellings in amyotrophic lateral sclerosis

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Keywords

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