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July 1, 2026Journal of NeurologyOpen Access

Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot–Marie–Tooth disease

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Authors

CYChikashi YanoMAMasahiro AndoYHYujiro Higuchi

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Overview

Multicenter study reveals early onset and severe effects of PMP22 point mutations in Japanese CMT patients, suggesting diverse neuropathy characteristics.

Key Points

  • This research aims to characterize the genetic, clinical, and electrophysiological features of PMP22 point mutations in Japanese patients with Charcot-Marie-Tooth disease.
  • Multicenter study with 3352 Japanese patients suspected of having inherited peripheral neuropathies or CMT
  • Utilized fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, gene panel sequencing, or whole-exome analysis
  • Collected clinical and electrophysiological data from patients' medical records.
  • 30 patients with PMP22 point mutations and 57 patients with PMP22 duplications were enrolled
  • Patients with point mutations had a significantly earlier disease onset (0 vs 35.0 years) and lower family history (14.3% vs 61.7%)
  • More patients with point mutations had undetectable upper limb compound muscle action potentials (18/25 vs 1/50).

Cite This Study

Yano et al. (2026) studied this question.

synapsesocial.com/papers/6a44af325cd2549c8bc4447fhttps://doi.org/10.1007/s00415-026-13946-3
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