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<p>Hereditary cerebellar ataxias are a group of rare genetic disorders that affect coordination, balance, and speech. Childhood-onset forms can be especially severe and difficult to diagnose. The <i>VWA3B</i> gene, though not fully understood, plays a role in brain development and has been linked to autosomal recessive spinocerebellar ataxia type 22 (SCAR22), an adult-onset cerebellar ataxia with variable features. A single family with 3 affected adults has been described to date. We report a 1 year 9 months old boy with early-onset neuroregression and ataxia. Prominent dystonia involving the limbs and eyelids (blepharospasm) was also a novel feature observed in him. Exome sequencing revealed compound heterozygous variants in <Emphasis Type="BoldItalic">VWA3B</Emphasis>. Unlike the previous report describing a missense variant, our patient had nonsense and frameshift variants. This case highlights the expanding clinical and genotypic spectrum of <i>VWA3B</i>-related ataxia.</p>

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Childhood-onset ataxia with dystonia: expanding the spectrum of VWA3B-related disorders

  • 期刊论文

  • 发表日期：

    2026年2月12日

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  • Naik Adarsha,
  • Pradip Paria,
  • Amita Moirangthem

摘要

Hereditary cerebellar ataxias are a group of rare genetic disorders that affect coordination, balance, and speech. Childhood-onset forms can be especially severe and difficult to diagnose. The VWA3B gene, though not fully understood, plays a role in brain development and has been linked to autosomal recessive spinocerebellar ataxia type 22 (SCAR22), an adult-onset cerebellar ataxia with variable features. A single family with 3 affected adults has been described to date. We report a 1 year 9 months old boy with early-onset neuroregression and ataxia. Prominent dystonia involving the limbs and eyelids (blepharospasm) was also a novel feature observed in him. Exome sequencing revealed compound heterozygous variants in VWA3B. Unlike the previous report describing a missense variant, our patient had nonsense and frameshift variants. This case highlights the expanding clinical and genotypic spectrum of VWA3B-related ataxia.