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We investigated the genetic and clinical spectrum of GAN in Japanese patients with inherited peripheral neuropathies (IPNs).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We conducted genetic screening of 3315 Japanese patients diagnosed with IPNs between 2007 and 2023 using targeted next-generation or whole-exome sequencing. Variant pathogenicity, clinical features, and neurophysiological and neuroimaging findings were reviewed.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We identified seven biallelic <jats:italic>GAN<\/jats:italic> variants in five patients from four unrelated families, including one homozygous and three compound heterozygous genotypes. Two novel pathogenic variants were identified: c.922G\u2009&gt;\u2009T (p.Glu308*) and c.456dup (p.Ala153Cysfs*27). Two families exhibited the classical phenotype, whereas the other two exhibited a CMT-like phenotype. Mean onset age was 4.4\u00a0years (range 1.5\u20138), and gait disturbance was the initial symptom. The most common findings included distal weakness (n\u2009=\u20095), sensory impairment (n\u2009=\u20094), scoliosis (n\u2009=\u20093), autonomic dysfunction (n\u2009=\u20092). Neurophysiologically, all patients had sensorimotor axonal polyneuropathy. One patient with mild phenotype maintained a CMT-like state without systemic involvement until the age of 43\u00a0years and was still alive at 72, representing the longest documented survival in GAN.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>This study expands the genetic and phenotypic spectrum of GAN by identifying novel variants and a long-term survivor. These findings underscore the importance of systematic genetic screening for <jats:italic>GAN<\/jats:italic> in pediatric-onset CMT, even in the absence of classical features.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1007\/s00415-025-13243-5","type":"journal-article","created":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T07:56:01Z","timestamp":1752652561000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Charcot\u2013Marie\u2013Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case 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