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<p>We report a young Indian woman with a homozygous deletion in <i>FA2H</i> manifesting with a progressive spastic paraparesis, skeletal deformities, and subtle oculomotor signs, thereby broadening the phenotypic spectrum of HSP35. Except for diffuse spinal cord atrophy in MRI, other investigations were non-contributory. Whole exome sequencing with mitochondrial analysis revealed a homozygous variant <i>c.32_34delTCT (p.Phe11del)</i> in <i>FA2H gene</i> in Exon 1 of chromosome 16-a likely pathogenic, autosomal recessive mutation (<i>ACMG: PM2</i>,<i>PM4</i>,<i>PP4-Moderate</i>). This report underscores the importance of considering FA2H-related HSP even in late-onset or atypical presentations of adult-onset spastic paraparesis, especially in consanguineous populations, even when classical imaging findings are absent. Genetic testing remains crucial for diagnosis, prognostication, and counselling.</p>

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An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis

  • 期刊论文

  • 发表日期：

    2025年9月26日

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  • Subhajit Roy,
  • Pooja Mailankody,
  • Gautham Arunachal,
  • Rohan R. Mahale,
  • Hansashree Padmanabha

摘要

We report a young Indian woman with a homozygous deletion in FA2H manifesting with a progressive spastic paraparesis, skeletal deformities, and subtle oculomotor signs, thereby broadening the phenotypic spectrum of HSP35. Except for diffuse spinal cord atrophy in MRI, other investigations were non-contributory. Whole exome sequencing with mitochondrial analysis revealed a homozygous variant c.32_34delTCT (p.Phe11del) in FA2H gene in Exon 1 of chromosome 16-a likely pathogenic, autosomal recessive mutation (ACMG: PM2,PM4,PP4-Moderate). This report underscores the importance of considering FA2H-related HSP even in late-onset or atypical presentations of adult-onset spastic paraparesis, especially in consanguineous populations, even when classical imaging findings are absent. Genetic testing remains crucial for diagnosis, prognostication, and counselling.