Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder Article Swipe
Mathilde Duchesne
,
Aurore Danigo
,
Laurence Richard
,
Jean‐Michel Vallat
,
Shahram Attarian
,
Pierre‐Marie Gonnaud
,
Arnaud Lacour
,
Yann Péréon
,
T. Stojkovic
,
Klaus‐Armin Nave
,
Viviane Bertrand
,
Serguei Nabirotchkin
,
Daniel Cohen
,
Claire Demiot
,
Laurent Magy
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1093/jnen/nly001
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.1093/jnen/nly001
Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of Charcot-Marie-Tooth diseases, is a demyelinating neuropathy caused by a deletion encompassing the gene coding for PMP22, a myelin protein of the peripheral nervous system. Although myelinated fibers are mostly involved in CMT1A, some patients experience neuropathic pain. We thus investigated whether unmyelinated fibers are lost in CMT1A. Skin biopsies were taken from the distal portion of the leg of 80 patients with CMT1A as part of the PXT30003-01 study and processed for quantification of intraepidermal nerve fiber density (IENFD). Mean IENFD was significantly lower in CMT1A patients than in healthy controls. Although the data were highly dispersed, IENFD tended to decrease with age and was higher overall in female patients and controls than male patients and controls. This study shows that small nerve fibers are affected in CMT1A and that this correlates with pin sensitivity. The density of epidermal Langerhans cells (LCs) was also significantly reduced in CMT1A patients, suggesting the involvement of LCs in neuropathic pain processes. These findings raise several questions concerning the interactions of Schwann cells and LCs with unmyelinated fibers in CMT1A. Moreover, they suggest that factors other than PMP22 gene dosage are involved in small fiber pathology in CMT1A.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/jnen/nly001
- https://academic.oup.com/jnen/article-pdf/77/4/274/24372497/nly001.pdf
- OA Status
- bronze
- Cited By
- 12
- References
- 24
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2794195175
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Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2794195175Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/jnen/nly001Digital Object Identifier
- Title
-
Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the DisorderWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-02-02Full publication date if available
- Authors
-
Mathilde Duchesne, Aurore Danigo, Laurence Richard, Jean‐Michel Vallat, Shahram Attarian, Pierre‐Marie Gonnaud, Arnaud Lacour, Yann Péréon, T. Stojkovic, Klaus‐Armin Nave, Viviane Bertrand, Serguei Nabirotchkin, Daniel Cohen, Claire Demiot, Laurent MagyList of authors in order
- Landing page
-
https://doi.org/10.1093/jnen/nly001Publisher landing page
- PDF URL
-
https://academic.oup.com/jnen/article-pdf/77/4/274/24372497/nly001.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/jnen/article-pdf/77/4/274/24372497/nly001.pdfDirect OA link when available
- Concepts
-
Nerve fiber, Medicine, Pathophysiology, Skin biopsy, Neuropathic pain, Biopsy, Myelin, Peripheral neuropathy, Pathology, Schwann cell, Internal medicine, Central nervous system, Endocrinology, Anatomy, Anesthesia, Diabetes mellitusTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
12Total citation count in OpenAlex
- Citations by year (recent)
-
2024: 2, 2023: 1, 2022: 2, 2020: 3, 2019: 3Per-year citation counts (last 5 years)
- References (count)
-
24Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| publication_year | 2018 |
| referenced_works | https://openalex.org/W1971420180, https://openalex.org/W1988628018, https://openalex.org/W2168273561, https://openalex.org/W2101631478, https://openalex.org/W2089172399, https://openalex.org/W1981459288, https://openalex.org/W2009429694, https://openalex.org/W2092384988, https://openalex.org/W2072262931, https://openalex.org/W2137894294, https://openalex.org/W2110244140, https://openalex.org/W2079359350, https://openalex.org/W2029784001, https://openalex.org/W2087340224, https://openalex.org/W2099615506, https://openalex.org/W2024864390, https://openalex.org/W2132877281, https://openalex.org/W6640727165, https://openalex.org/W2092776847, https://openalex.org/W2056425267, https://openalex.org/W2095325801, https://openalex.org/W2156452759, https://openalex.org/W1953861752, https://openalex.org/W2340045113 |
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| corresponding_author_ids | https://openalex.org/A5064740357 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 15 |
| corresponding_institution_ids | https://openalex.org/I65806277 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.8100000023841858 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.65463365 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |