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Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.

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Title: Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.
Authors: Barbat du Closel, Luce (AUTHOR), Bonello‐Palot, Nathalie (AUTHOR), Péréon, Yann (AUTHOR), Echaniz‐Laguna, Andoni (AUTHOR), Camdessanche, Jean Philippe (AUTHOR), Nadaj‐Pakleza, Aleksandra (AUTHOR), Chanson, Jean‐Baptiste (AUTHOR), Frachet, Simon (AUTHOR), Magy, Laurent (AUTHOR), Cassereau, Julien (AUTHOR), Cintas, Pascal (AUTHOR), Choumert, Ariane (AUTHOR), Devic, Perrine (AUTHOR), Leonard Louis, Sarah (AUTHOR), Gravier Dumonceau, Robinson (AUTHOR), Delmont, Emilien (AUTHOR), Salort‐Campana, Emmanuelle (AUTHOR), Bouhour, Françoise (AUTHOR), Latour, Philippe (AUTHOR), Stojkovic, Tanya (AUTHOR)
Source: European Journal of Neurology. Oct2023, Vol. 30 Issue 10, p3265-3276. 12p.
Subjects: Charcot-Marie-Tooth disease, Neural conduction, Electrophysiology, Symptoms, Test scoring
Abstract: Background: X‐Linked Charcot–Marie–Tooth disease type 1 (CMTX1) is characterized by gender differences in clinical severity. Women are usually clinically affected later and less severely than men. However, their clinical presentation appears to be heterogenous. Our aim was to extend the phenotypic description in a large series of women with CMTX1. Methods: We retrospectively evaluated 263 patients with CMTX1 from 11 French reference centers. Demographic, clinical, and nerve conduction data were collected. The severity was assessed by CMT Examination Score (CMTES) and Overall Neuropathy Limitations Scale (ONLS) scores. We looked for asymmetrical strength, heterogeneous motor nerve conduction velocity (MNCV), and motor conduction blocks (CB). Results: The study included 137 women and 126 men from 151 families. Women had significantly more asymmetric motor deficits and MNCV than men. Women with an age of onset after 19 years were milder. Two groups of women were identified after 48 years of age. The first group represented 55%, with women progressing as severely as men, however, with a later onset age. The second group had mild or no symptoms. Some 39% of women had motor CB. Four women received intravenous immunoglobulin before being diagnosed with CMTX1. Conclusions: We identified two subgroups of women with CMTX1 who were over 48 years of age. Additionally, we have demonstrated that women with CMTX can exhibit an atypical clinical presentation, which may result in misdiagnosis. Therefore, in women presenting with chronic neuropathy, the presence of clinical asymmetry, heterogeneous MNCV, and/or motor CB should raise suspicion for X‐linked CMT, particularly CMTX1, and be included in the differential diagnosis. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Label: Title
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  Data: Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.
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  Data: <searchLink fieldCode="AR" term="%22Barbat du Closel%2C+Luce%22">Barbat du Closel, Luce</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bonello‐Palot%2C+Nathalie%22">Bonello‐Palot, Nathalie</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Péréon%2C+Yann%22">Péréon, Yann</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Echaniz‐Laguna%2C+Andoni%22">Echaniz‐Laguna, Andoni</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Camdessanche%2C+Jean+Philippe%22">Camdessanche, Jean Philippe</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Nadaj‐Pakleza%2C+Aleksandra%22">Nadaj‐Pakleza, Aleksandra</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chanson%2C+Jean‐Baptiste%22">Chanson, Jean‐Baptiste</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Frachet%2C+Simon%22">Frachet, Simon</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Magy%2C+Laurent%22">Magy, Laurent</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cassereau%2C+Julien%22">Cassereau, Julien</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cintas%2C+Pascal%22">Cintas, Pascal</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Choumert%2C+Ariane%22">Choumert, Ariane</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Devic%2C+Perrine%22">Devic, Perrine</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Leonard Louis%2C+Sarah%22">Leonard Louis, Sarah</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gravier Dumonceau%2C+Robinson%22">Gravier Dumonceau, Robinson</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Delmont%2C+Emilien%22">Delmont, Emilien</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Salort‐Campana%2C+Emmanuelle%22">Salort‐Campana, Emmanuelle</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bouhour%2C+Françoise%22">Bouhour, Françoise</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Latour%2C+Philippe%22">Latour, Philippe</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Stojkovic%2C+Tanya%22">Stojkovic, Tanya</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Oct2023, Vol. 30 Issue 10, p3265-3276. 12p.
– Name: Subject
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  Data: <searchLink fieldCode="DE" term="%22Charcot-Marie-Tooth+disease%22">Charcot-Marie-Tooth disease</searchLink><br /><searchLink fieldCode="DE" term="%22Neural+conduction%22">Neural conduction</searchLink><br /><searchLink fieldCode="DE" term="%22Electrophysiology%22">Electrophysiology</searchLink><br /><searchLink fieldCode="DE" term="%22Symptoms%22">Symptoms</searchLink><br /><searchLink fieldCode="DE" term="%22Test+scoring%22">Test scoring</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: X‐Linked Charcot–Marie–Tooth disease type 1 (CMTX1) is characterized by gender differences in clinical severity. Women are usually clinically affected later and less severely than men. However, their clinical presentation appears to be heterogenous. Our aim was to extend the phenotypic description in a large series of women with CMTX1. Methods: We retrospectively evaluated 263 patients with CMTX1 from 11 French reference centers. Demographic, clinical, and nerve conduction data were collected. The severity was assessed by CMT Examination Score (CMTES) and Overall Neuropathy Limitations Scale (ONLS) scores. We looked for asymmetrical strength, heterogeneous motor nerve conduction velocity (MNCV), and motor conduction blocks (CB). Results: The study included 137 women and 126 men from 151 families. Women had significantly more asymmetric motor deficits and MNCV than men. Women with an age of onset after 19 years were milder. Two groups of women were identified after 48 years of age. The first group represented 55%, with women progressing as severely as men, however, with a later onset age. The second group had mild or no symptoms. Some 39% of women had motor CB. Four women received intravenous immunoglobulin before being diagnosed with CMTX1. Conclusions: We identified two subgroups of women with CMTX1 who were over 48 years of age. Additionally, we have demonstrated that women with CMTX can exhibit an atypical clinical presentation, which may result in misdiagnosis. Therefore, in women presenting with chronic neuropathy, the presence of clinical asymmetry, heterogeneous MNCV, and/or motor CB should raise suspicion for X‐linked CMT, particularly CMTX1, and be included in the differential diagnosis. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/ene.15937
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        Text: English
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