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Purpose of Review <p>&gt;Charcot-Marie-Tooth neuropathy type 4B3 (CMT4B3) is a rare inherited neuropathy caused by <i>SBF1</i> gene defects, presenting with progressive sensory-motor polyneuropathy, cerebellar ataxia, and cranial nerve involvement. Sjögren syndrome may also cause cranial and peripheral neuropathies. </p> Recent Findings <p>We report a woman with mild cerebellar ataxia, progressive sensory-motor polyneuropathy worsened after pregnancy, scoliosis, <i>pes cavus</i>, and oculomotor abnormalities. Elevated anti-SSA/Ro and ANA suggested neuro-Sjögren after excluding other causes. Atypical progression and unclear diagnosis prompted whole-exome sequencing-based testing, revealing two novel heterozygous variants in <i>SBF1</i> gene. A literature review was performed to describe similar cases.</p> Summary <p>This case highlights the challenge in distinguishing hereditary from acquired neuropathies and emphasizes genetic testing’s role in complex cases, expanding CMT4B3’s clinical spectrum.</p>

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Charcot-Marie-Tooth 4B3 Phenotype Expansion and Confounding Factors

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月9日

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  • Lénia Silva,
  • Liliana Igreja,
  • Márcio Cardoso,
  • Raquel Samões,
  • Miguel Pinto,
  • António Marinho,
  • Jorge Oliveira,
  • Marina Magalhães

摘要

Purpose of Review

>Charcot-Marie-Tooth neuropathy type 4B3 (CMT4B3) is a rare inherited neuropathy caused by SBF1 gene defects, presenting with progressive sensory-motor polyneuropathy, cerebellar ataxia, and cranial nerve involvement. Sjögren syndrome may also cause cranial and peripheral neuropathies.

Recent Findings

We report a woman with mild cerebellar ataxia, progressive sensory-motor polyneuropathy worsened after pregnancy, scoliosis, pes cavus, and oculomotor abnormalities. Elevated anti-SSA/Ro and ANA suggested neuro-Sjögren after excluding other causes. Atypical progression and unclear diagnosis prompted whole-exome sequencing-based testing, revealing two novel heterozygous variants in SBF1 gene. A literature review was performed to describe similar cases.

Summary

This case highlights the challenge in distinguishing hereditary from acquired neuropathies and emphasizes genetic testing’s role in complex cases, expanding CMT4B3’s clinical spectrum.