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Related Experiment Video

Updated: Jul 6, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
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Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.

D Safka Brozkova1, T Stojkovic2, J Haberlová1

  • 1DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

European Journal of Neurology
|August 7, 2020
PubMed
Summary

Mutations in the FBLN5 gene are a cause of Charcot-Marie-Tooth disease type 1 (CMT1), presenting with later onset and distinct sensory symptoms. This finding supports including FBLN5 in genetic testing for CMT1.

Keywords:
FBLN5Charcot-Marie-Tooth neuropathyautosomal dominantdemyelinating neuropathyinherited peripheral neuropathy

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Charcot-Marie-Tooth disease type 1 (CMT1) is an inherited demyelinating neuropathy.
  • PMP22 gene duplication is the most common cause, but rare mutations exist.
  • FBLN5 mutations have recently been identified in CMT1 families.

Purpose of the Study:

  • To investigate the clinical and genetic characteristics of FBLN5-associated CMT1.
  • To determine the significance of FBLN5 mutations in CMT1 etiology.
  • To propose a classification for FBLN5-related CMT1.

Main Methods:

  • Compilation of individuals with FBLN5-associated CMT1 from genetic testing laboratories.
  • Extraction of clinical data from medical records and patient visits.

Main Results:

  • Nineteen CMT1 families with 38 FBLN5 variant carriers were identified.
  • A hotspot mutation c.1117C>T (p.Arg373Cys) was confirmed.
  • FBLN5-associated CMT1 showed later diagnosis (3rd-5th decade), milder nerve conduction velocities, and prominent sensory disturbances compared to PMP22 duplication CMT1.

Conclusions:

  • FBLN5 mutations are a relevant cause of CMT1.
  • FBLN5 should be included in the genetic work-up for suspected CMT1, especially with later onset and sensory-predominant symptoms.
  • FBLN5-associated CMT1 is proposed to be classified as CMT1H.