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Updated: Jun 16, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Small fiber neuropathy in Charcot-Marie-Tooth disease
1EMG Laboratory, Department of Neurology, University of Athens, Aeghinition Hospital, Athens, Greece. tzabelis@med.uoa.gr
Small fiber dysfunction is common in Charcot-Marie-Tooth type 1A (CMT1A) polyneuropathy. This study found impaired warm and cold sensation in most CMT1A patients, unlike those with CMTX.
Area of Science:
- Neurology
- Clinical Neuroscience
- Peripheral Neuropathy Research
Background:
- Charcot-Marie-Tooth (CMT) disease encompasses various inherited peripheral neuropathies.
- Understanding small fiber involvement is crucial for characterizing CMT subtypes like CMT1A and CMTX.
Purpose of the Study:
- To compare small myelinated (Adelta) and unmyelinated (C) fiber function in patients with CMT1A versus CMTX polyneuropathy.
- To assess postganglionic sympathetic fiber function using sympathetic skin responses (SSR).
Main Methods:
- Evaluated warm and cold thresholds to assess Adelta and C fiber function.
- Measured SSR to evaluate sympathetic fiber function.
- Compared findings between 17 CMT1A and 10 CMTX patients.
Main Results:
- CMTX patients had higher Charcot-Marie-Tooth neuropathy scores.
- CMT1A patients showed significantly higher rates of abnormal warm (72%) and cold (53%) thresholds compared to CMTX patients (10% and 20%, respectively).
- SSR abnormalities were infrequent in both groups.
Conclusions:
- Small fiber dysfunction, particularly sensory, is a frequent clinical finding in CMT1A polyneuropathy.
- These findings highlight distinct pathophysiological differences between CMT1A and CMTX.
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