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<p>A 40-year-old man with adult-onset spastic-ataxia and tremor showed a leukoencephalopathy with a hypomyelinating pattern on brain MRI. Whole-exome sequencing identified two novel likely pathogenic variants in <i>KIF1C</i>, a gene associated with spastic-ataxia type 2 (SPAX2). This case supports including <i>KIF1C</i> among the causes of adult-onset hypomyelinating leukodystrophies and highlights the diagnostic overlap between spastic-ataxia, hereditary spastic paraplegia, and hypomyelinating leukodystrophies, underscoring the limitations of current nomenclature.&#xa0;</p>

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KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity

  • 期刊论文

  • 发表日期：

    2025年8月12日

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  • Chiara Benzoni,
  • Marco Moscatelli,
  • Daniela Di Bella,
  • Ettore Salsano

摘要

A 40-year-old man with adult-onset spastic-ataxia and tremor showed a leukoencephalopathy with a hypomyelinating pattern on brain MRI. Whole-exome sequencing identified two novel likely pathogenic variants in KIF1C, a gene associated with spastic-ataxia type 2 (SPAX2). This case supports including KIF1C among the causes of adult-onset hypomyelinating leukodystrophies and highlights the diagnostic overlap between spastic-ataxia, hereditary spastic paraplegia, and hypomyelinating leukodystrophies, underscoring the limitations of current nomenclature.