What question did this study set out to answer?

To characterize the genetic spectrum, clinical variability, and prevalence of giant axonal neuropathy in patients evaluated for inherited peripheral neuropathies.

July 16, 2025Journal of NeurologyOpen Access

Charcot–Marie–Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series

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To characterize the genetic spectrum, clinical variability, and prevalence of giant axonal neuropathy in patients evaluated for inherited peripheral neuropathies.
Screened 3,315 Japanese patients diagnosed with inherited peripheral neuropathies between 2007 and 2023 using targeted next-generation or whole-exome sequencing.
Evaluated variant pathogenicity alongside clinical features, neurophysiological testing, and neuroimaging records across identified cases.
Identified seven biallelic GAN variants, including two novel pathogenic mutations, across five patients from four unrelated families.
Two families exhibited classical disease features while two demonstrated a Charcot-Marie-Tooth-like phenotype, with all five patients displaying sensorimotor axonal polyneuropathy and a mean onset age of 4.4 years.
One patient with a mild presentation remained in a Charcot-Marie-Tooth-like state without systemic involvement until age 43 and survived to age 72, marking the longest documented survival in giant axonal neuropathy.

Authors

THTakahiro HobaraKagoshima University MAMasahiro AndoKagoshima University YHYujiro HiguchiKagoshima University

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Implication

Case series uncovers Charcot-Marie-Tooth-like presentations in giant axonal neuropathy, highlighting the need for genetic screening in pediatric-onset neuropathies.

Cite This Study

Hobara et al. (2025) studied this question.

synapsesocial.com/papers/6a790fcf6971db5bdd67491d https://doi.org/10.1007/s00415-025-13243-5

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Implication

Case series uncovers Charcot-Marie-Tooth-like presentations in giant axonal neuropathy, highlighting the need for genetic screening in pediatric-onset neuropathies.

Charcot–Marie–Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series

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Discussion

Implication

Cite This Study

Charcot–Marie–Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series

Key Points

Discussion

Implication

Cite This Study

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